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Klinefelter syndrome

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411: 402: 873:, and first described it in the same year. The account given by Klinefelter came to be known as Klinefelter syndrome as his name appeared first on the published paper, and seminiferous tubule dysgenesis was no longer used. Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome. In 1956, Klinefelter syndrome was found to result from an extra chromosome. Plunkett and Barr found the sex chromatin body in cell nuclei of the body. This was further clarified as XXY in 1959 by 773:, analysis of the karyotype using cells from the oral mucosa is performed. Physical characteristics of a Klinefelter syndrome can be tall stature, low body hair, and occasionally an enlargement of the breast. Usually, a small testicle volume of 1–5 ml per testicle (standard values: 12–30 ml) occurs. During puberty and adulthood, low testosterone levels with increased levels of the pituitary hormones FSH and LH in the blood can indicate the presence of Klinefelter syndrome. A 58: 587: 603: 634:. The relevant nondisjunction in meiosis I occurs when homologous chromosomes, in this case the X and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Fertilizing a normal (X) egg with this sperm produces an XXY or Klinefelter offspring. Fertilizing a double X egg with a normal sperm also produces an XXY or Klinefelter offspring. 832: 803:
As the genetic variation is irreversible, no causal therapy is available. From the onset of puberty, the existing testosterone deficiency can be compensated by appropriate hormone-replacement therapy. Testosterone preparations are available in the form of syringes, patches, or gel. If gynecomastia is
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can also be part of the further investigation. Often, an azoospermia is present, or rarely an oligospermia. Furthermore, Klinefelter syndrome can be diagnosed as a coincidental prenatal finding in the context of invasive prenatal diagnosis (amniocentesis, chorionic villus sampling). Approximately 10%
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Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. Nondisjunction occurs when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. An XX egg is produced, which when fertilized with a Y sperm, yields an
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As adults, they live lives similar to others without the condition; they have friends, families, and normal social relationships. Nonetheless, some individuals may experience social and emotional problems due to problems in childhood. They show a lower sex drive and low self-esteem, in most cases due
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Compared to individuals with a normal number of chromosomes, males affected by Klinefelter syndrome may display behavioral differences. These are phenotypically displayed as higher levels of anxiety and depression, mood dysregulation, impaired social skills, emotional immaturity during childhood, and
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of approximately four subjects per every 10,000 (0.04%) males in the general population. However, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives. The rate of Klinefelter syndrome among infertile males is 3.1%. The syndrome is the main
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tends to be lower than average. Language milestones may also be delayed, particularly when compared to other people their age. Between 25% and 85% of males with XXY have some kind of language problem, such as delay in learning to speak, trouble using language to express thoughts and needs, problems
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Chromosomal abnormalities, including Klinefelter syndrome, are the most common cause of spontaneous abortion. Generally, the severity of the malformations is proportional to the number of extra X chromosomes present in the karyotype. For example, patients with 49 chromosomes (XXXXY) have a lower IQ
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In 1995, a scientific study evaluated the psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. It demonstrated that males with XXY tend to be quiet, shy and undemanding; they are less self-confident, less active, and more helpful and obedient than other children their age.
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As babies and children, those with XXY chromosomes may have lower muscle tone and reduced strength. They may sit up, crawl, and walk later than other infants. An average KS child will start walking at 19 months of age. They may also have less muscle control and coordination than other children of
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47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Often, symptoms are milder in mosaic cases, with regular male secondary sex characteristics and testicular volume even falling within typical adult ranges. Another possible mosaicism is 47,XXY/46,XX with clinical
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Klinefelter syndrome has different manifestations and these will vary from one patient to another. Among the primary features are infertility and small, poorly functioning testicles. Often, symptoms may be subtle and many people do not realize they are affected. In other cases, symptoms are more
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is one in 85,000 to 100,000 male births. These variations are extremely rare. Additional chromosomal material can contribute to cardiac, neurological, orthopedic, urinogenital and other anomalies. Thirteen cases of individuals with a 47,XXY karyotype and a female phenotype have been described.
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By adulthood, individuals with KS tend to become taller than average, with proportionally longer arms and legs, less-muscular bodies, more belly fat, wider hips, narrower shoulders. Some will show little to no symptomology, a lanky, youthful build and facial appearance, or a rounded body type.
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During puberty, KS subjects show less muscular body, less facial and body hair, and broader hips as a consequence of low levels of testosterone. Delays in motor development may occur, which can be addressed through occupational and physical therapies. As teens, males with XXY may develop
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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years.
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The symptoms of KS are often variable, so a karyotype analysis should be ordered when small testes, infertility, gynecomastia, long arms/legs, developmental delay, speech/language deficits, learning disabilities/academic issues, and/or behavioral issues are present in an individual.
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Women typically have two X chromosomes, with half of their X chromosomes switching off early in embryonic development. The same happens with people with Klinefelter's, including in both cases a small proportion of individuals with a skewed ratio between the two Xs.
505:. Additional abnormalities may include impaired attention, reduced organizational and planning abilities, deficiencies in judgment (often presented as a tendency to interpret non-threatening stimuli as threatening), and dysfunctional decision processing. 468:, have weaker bones, and a lower energy level than others. Testicles are affected and are usually less than 2 cm in length (and always shorter than 3.5 cm), 1 cm in width, and 4ml in volume. Those with XXY chromosomes may also have 379:
rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is diagnosed by the
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Individuals with KS are often infertile or have reduced fertility. Advanced reproductive assistance is sometimes possible in order to produce an offspring since approximately 50% of males with Klinefelter syndrome can produce
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The lifespan of individuals with Klinefelter syndrome appears to be reduced by around 2.1 years compared to the general male population. These results are still questioned data, are not absolute, and need further testing.
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Salzano A, Arcopinto M, Marra AM, Bobbio E, Esposito D, Accardo G, et al. (July 2016). "Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives".
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Gynecomastia (increased breast tissue) in males is common, affecting up to 80% of cases. Approximately 10% of males with XXY chromosomes have gynecomastia noticeable enough that they may choose to have surgery.
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conditions are thought to occur less frequently in those with XXY than in those without, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only
710:" in XXY symptoms is often misinterpreted to mean "small testicles", when it instead means decreased testicular hormone/endocrine function. Because of (primary) hypogonadism, individuals often have a low serum 1005: 845:(ICSI) with previously conducted testicular sperm extraction (TESE), have led to men with Klinefelter syndrome producing biological offspring. By 2010, over 100 successful pregnancies have been reported using 522:
low frustration tolerance. These neurocognitive disabilities are most likely due to the presence of the extra X chromosome, as indicated by studies carried out on animal models carrying an extra X chromosome.
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Roca-Rada X, Tereso S, Rohrlach AB, Brito A, Williams MP, Umbelino C, et al. (August 2022). "A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics".
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Klinefelter Jr HF, Reifenstein Jr EC, Albright Jr F (1942). "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone".
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Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, et al. (2006). "Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report".
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Abramsky L, Chapple J (April 1997). "47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling".
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reading, and trouble processing what they hear. They may also have a harder time doing work that involves reading and writing, but most hold jobs and have successful careers.
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XXY offspring. This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in approximately one in 500 live male births.
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cause of male hypogonadism. One survey in the United Kingdom found that the majority of people with KS identify as male, however, a significant number have a different
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features suggestive of KS and male phenotype, but this is very rare. Thus far, only approximately 10 cases of 47,XXY/46,XX have been described in literature.
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Graham JM, Bashir AS, Stark RE, Silbert A, Walzer S (June 1988). "Oral and written language abilities of XXY boys: implications for anticipatory guidance".
4659: 2970: 4639: 4635: 3873: 1033:"Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern" 1479: 3469:
Visootsak J, Aylstock M, Graham JM (December 2001). "Klinefelter syndrome and its variants: an update and review for the primary pediatrician".
2240: 2647: 1792: 2535: 1551: 2996: 501:, although these deficits can often be overcome through early intervention. It is estimated that 10% of those with Klinefelter syndrome are 912:, previously assumed to be a woman, concluded that person "whose gender identity may well have been non-binary", had Klinefelter syndrome. 896:
Klinefelter syndrome has been identified in ancient burials. In August 2022, a team of scientists published a study of a skeleton found in
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Bender BG, Harmon RJ, Linden MG, Robinson A (August 1995). "Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities".
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Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes
1332: 3866: 554:. Nonetheless, the risk of breast cancer is still below the normal risk for women. These patients are also more prone to develop 3670: 497:
Some degree of language learning or reading impairment may be present, and neuropsychological testing often reveals deficits in
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Maclean N, Harnden DG, Court Brown WM (August 1961). "Abnormalities of sex chromosome constitution in newborn babies".
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Jacobs PA, Strong JA (January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism".
1001: 1883:"The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome" 641:
In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as
4545: 3178: 1998: 4128: 1264: 1181: 1082: 904:, of a man who died around 1000 AD and was discovered by their investigations to have a 47,XXY karyotype. In 2021, 842: 835: 4527: 4470: 4060: 3360: 1359:
Klinefelter, Harry Fitch Jr. (September 1986). "Klinefelter's syndrome: historical background and development".
4521: 4460: 4398: 2962: 866: 723: 4015: 645:. This happens in XXY males, as well as normal XX females. However, in XXY males, a few genes located in the 201: 4696: 4464: 4456: 4412: 4104: 4044: 3979: 3957: 1298: 742: 715: 3610:"Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review" 1428:
Kanakis, George A.; Nieschlag, Eberhard (September 2018). "Klinefelter syndrome: more than hypogonadism".
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of their X chromosomes have corresponding genes on their Y chromosome and are capable of being expressed.
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de Vries AL, Roehle R, Marshall L, Frisén L, van de Grift TC, Kreukels BP, et al. (September 2019).
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They may struggle in school and sports, meaning they may have more trouble "fitting in" with other kids.
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Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (November 9, 2018).
1471: 881:. The first published report of a man with a 47,XXY karyotype was by Patricia Jacobs and John Strong at 357:(if present). These symptoms are often noticed only at puberty, although this is one of the most common 4691: 4402: 4100: 4096: 1582: 3261:"The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years" 1932:"Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries" 4706: 4569: 4531: 4330: 4165: 2655: 2232: 1800: 1528: 1267:. Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. 1184:. Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. 4019: 3777: 946: 882: 434:
prominent and may include weaker muscles, greater height, poor motor coordination, less body hair,
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A person with typical untreated Klinefelter 46,XY/47,XXY mosaic, diagnosed at age 19 – a scar from
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Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, et al. (May 2017).
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Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (March 2017).
1559: 1502: 438:(breast growth), and low libido. In the majority of the cases, these symptoms are noticed only at 4585: 4577: 4563: 4549: 4507: 4428: 4140: 3020:"Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis" 2992: 1824:"Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement" 1740: 1328: 905: 189: 180: 3512:
Matlach J, Grehn F, Klink T (Jan 2012). "Klinefelter syndrome associated with goniodysgenesis".
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can mitigate any language disorders, difficulties at school, and socialization. An approach by
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Chow JC, Yen Z, Ziesche SM, Brown CJ (2005-09-01). "Silencing of the mammalian X chromosome".
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Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M (January 2020).
2141:"Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated" 870: 509: 254: 1031:
Simonetti L, Ferreira LG, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, et al. (2021).
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Birth of a cell with karyotype XXY due to a nondisjunction event of one X chromosome during
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The syndrome is defined by the presence of at least one extra X chromosome in addition to a
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Moilanen U, Kirkinen T, Saari NJ, Rohrlach AB, Krause J, Onkamo P, Salmela E (2021-07-15).
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Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy".
1835: 1657:"Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review" 878: 816: 765:. A small blood sample is sufficient as test material. In the past, the observation of the 730: 539: 410: 401: 358: 193: 2363: 1739:
Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, et al. (May 2001).
8: 4559: 4372: 4006: 3766: 886: 719: 498: 3839: 3221: 1839: 1290: 4663: 4651: 4647: 4611: 4606: 4541: 4155: 3935: 3642: 3609: 3589: 3556: 3537: 3494: 3336: 3277: 3260: 3241: 2791: 2748: 2735: 2718: 2620: 2593: 2165: 2140: 2051: 1956: 1931: 1907: 1882: 1858: 1823: 1768: 1721: 1632: 1605: 1453: 1324: 1153: 1126: 1059: 1032: 812: 779: 169: 165: 139: 3771: 3447: 3314: 2267:"Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study" 808:
may be considered for psychological benefits and to reduce the risk of breast cancer.
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Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (April 2014).
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Blaschke RJ, Rappold G (June 2006). "The pseudoautosomal regions, SHOX and disease".
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Those with XXY are more likely than others to have certain health problems, such as
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Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A (August 2018).
1947: 1848: 971: 930: 874: 862: 750: 575: 563: 362: 353:. These complications commonly include infertility and small, poorly functioning 310: 149: 2190:"Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology" 761:
The standard diagnostic method is the analysis of the chromosomes' karyotype on
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Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (2014).
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Eunice Kennedy Shriver National Institute of Child Health and Human Development
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Eunice Kennedy Shriver National Institute of Child Health and Human Development
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and more severe physical manifestations than those with 48 chromosomes (XXXY).
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XXY syndrome, Klinefelter's syndrome, Klinefelter-Reifenstein-Albright syndrome
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Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA (December 2005).
2610: 2398: 2156: 1756: 1049: 4680: 4499: 4299: 4260: 4255: 4183: 4169: 4145: 4133: 4121: 4109: 4089: 3994: 3972: 3967: 3945: 3701: 3633: 3580: 3393: 1622: 981: 921: 734: 662: 631: 543: 238: 216: 197: 3087: 3070: 3036: 3019: 2852:"Mortality in patients with Klinefelter syndrome in Britain: a cohort study" 2327: 2310: 1990: 726:. Despite this misunderstanding of the term, testicular growth is arrested. 361:, occurring in one to two per 1,000 live births. It is named after American 4294: 4201: 4197: 4077: 4065: 4049: 4037: 4027: 3930: 3851: 3651: 3533: 3490: 3455: 3332: 3237: 3096: 3055: 2948: 2921: 2877: 2836: 2744: 2703: 2629: 2578: 2531: 2480: 2406: 2371: 2336: 2292: 2283: 2266: 2215: 2174: 2122: 2070: 2069:
Hultborn R, Hanson C, Köpf I, Verbiené I, Warnhammar E, Weimarck A (1997).
1965: 1916: 1867: 1764: 1682: 1641: 1449: 1182:"How many people are affected by or at risk for Klinefelter syndrome (KS)?" 1162: 1143: 1068: 976: 961: 746: 738: 711: 707: 559: 551: 435: 381: 372: 350: 266: 205: 161: 31: 3356:"A Woman with a Sword? – Weapon Grave at Suontaka Vesitorninmäki, Finland" 3286: 3123: 2787: 2441: 2433: 2206: 2189: 2086: 2047: 2039: 1717: 1709: 1380: 4316: 4287: 4282: 4179: 3812: 3572: 3420: 2912: 2895: 2868: 2851: 2827: 2810: 774: 249: 185: 173: 57: 3384: 3374: 3355: 3323: 3046: 2780:
10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O
2594:"Random X chromosome inactivation in patients with Klinefelter syndrome" 2114: 769:
was common practice, as well. To investigate the presence of a possible
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Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A (January 2013).
2889: 2887: 2556: 2472: 2134: 2132: 4277: 4233: 3925: 3920: 3823: 3788: 3229: 2071:"Prevalence of Klinefelter's syndrome in male breast cancer patients" 1898: 966: 820: 770: 766: 623: 595: 566:. It has not been demonstrated that hypertension is related with KS. 385: 304: 270: 157: 145: 66: 2963:"What are the treatments for symptoms in Klinefelter syndrome (KS)?" 2652:
National Library for Health, Specialist Libraries, Clinical Genetics
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technology with surgically removed sperm material from men with KS.
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Jacobs PA (1979). "Recurrence risks for chromosome abnormalities".
2884: 2129: 1535:. Drugs & Diseases: Pediatrics: Genetics and Metabolic Disease. 1239:"What are the treatments for symptoms in Klinefelter syndrome (KS)" 956: 901: 354: 3793: 1213:"How do health care providers diagnose Klinefelter syndrome (KS)?" 4446: 4229: 3902: 1741:"Neuropsychological profiles of adults with Klinefelter syndrome" 1655:
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C (October 2004).
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occurs in one in 18,000–50,000 male births. The incidence of 49,
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Kamischke A, Baumgardt A, Horst J, Nieschlag E (Jan–Feb 2003).
602: 502: 465: 424: 420: 325: 242: 111: 4535: 4474: 4450: 4380: 3353: 1880: 1821: 1738: 1127:"Klinefelter syndrome and other sex chromosomal aneuploidies" 1030: 666: 578:
rather than affected by these X-linked recessive conditions.
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Bojesen A, Juul S, Birkebaek N, Gravholt CH (August 2004).
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due to the predominance of metabolic abnormalities such as
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Journal of the International Neuropsychological Society
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In contrast to these potentially increased risks, rare
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The Journal of Clinical Endocrinology & Metabolism
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The syndrome was named after American endocrinologist
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Gabriele R, Borghese M, Conte M, Egidi F (2002). "".
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event of one X chromosome from a Y chromosome during
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Fullerton G, Hamilton M, Maheshwari A (March 2010).
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The Journal of Clinical Endocrinology and Metabolism
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The Journal of Clinical Endocrinology and Metabolism
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The Journal of Clinical Endocrinology and Metabolism
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The Journal of Clinical Endocrinology and Metabolism
2227: 2225: 349:, is a chromosome anomaly where a male has an extra 108: 105: 90: 3203: 3201: 2349: 2264: 84: 3173:(Pbk. ed.). New York: Guilford. p. 113. 2304: 2302: 933:. The prevalence of KS is higher than expected in 893:in her 1981 William Allan Memorial Award address. 516: 3511: 2641: 2639: 2311:"Novel genetic aspects of Klinefelter's syndrome" 2308: 2222: 819:is useful in children, especially those who have 678:Approximately 15–20% of males with KS may have a 4678: 3603: 3198: 2550: 2454: 2265:Bojesen A, Juul S, Gravholt CH (February 2003). 1786: 1784: 1782: 1527:Defendi GL (January 31, 2022). Rohena LO (ed.). 1427: 1265:"Is there a cure for Klinefelter syndrome (KS)?" 487: 3567:(S1). Royal College of Psychiatrists: S44–S45. 3252: 3138:"The Klinefelter-Reifenstein-Albright syndrome" 2765: 2384: 2299: 1124: 3462: 2636: 2457:"Chromosomal Variants in Klinefelter Syndrome" 2260: 2258: 1392: 1390: 618:The extra chromosome is retained because of a 4621:46,XX testicular disorders of sex development 3867: 2811:"Increased mortality in Klinefelter syndrome" 2669: 2654:. National Library for Health. Archived from 2387:Current Opinion in Genetics & Development 1779: 1648: 1580: 1207: 1205: 1203: 368:, who identified the condition in the 1940s. 3881: 3505: 3427: 3293: 3207: 2928: 2843: 2802: 2585: 2499: 2497: 2455:Frühmesser, A.; Kotzot, D. (29 April 2011). 2352:Annual Review of Genomics and Human Genetics 2233:"Klinefelter Syndrome – Inheritance Pattern" 1982:Animal models for the study of human disease 1354: 1352: 1350: 1176: 1174: 1172: 590:Birth of a cell with karyotype XXY due to a 530:to their feminine physical characteristics. 4443:Acute myeloblastic leukemia with maturation 3400: 2255: 1387: 1358: 3874: 3860: 1464: 1423: 1421: 1419: 1257: 1200: 841:Methods of reproductive medicine, such as 454: 56: 3641: 3588: 3383: 3373: 3322: 3276: 3103: 3086: 3045: 3035: 2984: 2911: 2867: 2826: 2734: 2710: 2693: 2619: 2609: 2521: 2494: 2326: 2282: 2205: 2164: 2138: 1955: 1906: 1857: 1847: 1672: 1631: 1621: 1347: 1283: 1169: 1152: 1142: 1120: 1118: 1116: 1114: 1112: 1110: 1108: 1058: 1048: 994: 920:This syndrome, evenly distributed in all 3160: 1790: 1732: 1546: 1544: 1542: 1500: 1317: 1231: 830: 826: 601: 585: 492: 2990: 2007:from the original on September 10, 2017 1604:Raheem, Amr Abdel (February 12, 2021). 1526: 1416: 1125:Visootsak J, Graham JM (October 2006). 14: 4679: 3554: 3406: 3258: 3170:Handbook of developmental disabilities 1603: 1105: 533: 3855: 3668: 3409:Birth Defects Original Article Series 3368:. Cambridge University Press: 42–60. 2645: 2364:10.1146/annurev.genom.6.080604.162350 2309:Tüttelmann F, Gromoll J (June 2010). 1539: 1501:Puscheck, Elizabeth (June 16, 2023). 1472:"Klinefelter Syndrome (KS): Overview" 1404:from the original on 8 September 2020 1305:from the original on 15 November 2012 741:, leading to decreased production of 733:cause a reduction in the function of 729:Destruction and hyalinization of the 391: 3166: 2559:European Journal of Medical Genetics 2538:from the original on 11 October 2020 2243:from the original on 30 January 2017 1978: 1797:Clinical Genetics Specialist Library 1581:Zierler-Browm SL (August 25, 2006). 1335:from the original on 17 January 2024 4556:Desmoplastic small-round-cell tumor 1583:"Klinefelter's Syndrome: XXY Males" 753:and further endocrine dysfunction. 687:Random versus skewed X-inactivation 24: 3662: 3608:; Nolan, Brendan J. (2022-04-15). 3347: 3265:American Journal of Human Genetics 2993:"Klinefelter Syndrome – Treatment" 2736:10.1002/j.1939-4640.2003.tb02638.x 2145:Deutsches Ärzteblatt International 1593:. West Palm Beach, Florida: 43–51. 1482:from the original on 18 March 2015 1271:from the original on 17 March 2015 1245:from the original on 15 March 2015 1219:from the original on 17 March 2015 1188:from the original on 17 March 2015 1093:from the original on 15 April 2019 908:of the individual buried with the 626:, maternal meiosis I, or maternal 25: 4718: 3693: 2598:Molecular and Cellular Pediatrics 2103:European Journal of Endocrinology 1131:Orphanet Journal of Rare Diseases 1012:from the original on 2 April 2015 423:is on his right breast above the 375:, yielding a total of 47 or more 4687:Diseases named after discoverers 4129:22q11.2 distal deletion syndrome 2999:from the original on 2 July 2012 2695:10.1016/j.fertnstert.2013.12.051 2523:10.1016/j.fertnstert.2013.12.051 1674:10.1016/j.fertnstert.2003.09.085 1610:Frontiers in Reproductive Health 1373:10.1097/00007611-198609000-00012 843:intracytoplasmic sperm injection 836:Intracytoplasmic sperm injection 409: 400: 296:, Testosterone Supplementation, 80: 4528:Dermatofibrosarcoma protuberans 4471:Acute megakaryoblastic leukemia 4399:Anaplastic large-cell lymphoma 4061:Chromosome 5q deletion syndrome 3555:Cai, Valerie; Yap, Tet (2022). 3361:European Journal of Archaeology 3187:from the original on 2017-09-10 3130: 3062: 3011: 2973:from the original on 2020-07-09 2955: 2759: 2448: 2413: 2378: 2343: 2181: 2093: 2062: 2019: 1972: 1923: 1874: 1815: 1689: 1597: 1574: 1520: 1494: 915: 906:bioarchaeological investigation 701: 517:Behavior and personality traits 1075: 1024: 867:Massachusetts General Hospital 806:surgical removal of the breast 724:hypergonadotropic hypogonadism 13: 1: 4251:Klinefelter syndrome (47,XXY) 4016:1q21.1 copy number variations 3448:10.1016/S0140-6736(61)92486-2 3315:10.1016/S0140-6736(22)01476-3 1791:GenePool (October 17, 2005). 1558:. 24 May 2007. Archived from 1442:10.1016/j.metabol.2017.09.017 987: 652: 548:venous thromboembolic disease 488:Psychological characteristics 202:venous thromboembolic disease 4457:Acute promyelocytic leukemia 4413:Acute lymphoblastic leukemia 4105:17q12 microdeletion syndrome 3980:22q11.2 duplication syndrome 3958:16p11.2 duplication syndrome 3526:10.1097/IJG.0b013e31824477ef 3259:Jacobs PA (September 1982). 2315:Molecular Human Reproduction 1948:10.1097/PSY.0000000000000718 1849:10.1371/journal.pone.0206932 1299:National Library of Medicine 798: 789: 756: 716:follicle-stimulating hormone 673: 7: 4702:Sex chromosome aneuploidies 4024:1q21.1 duplication syndrome 3911:1q21.1 duplication syndrome 940: 749:. This results in impaired 445: 294:speech and language therapy 27:Human chromosomal condition 18:Klinefelter's syndrome 10: 4723: 3483:10.1177/000992280104001201 2571:10.1016/j.ejmg.2005.09.001 861:, who in 1942 worked with 852: 690: 29: 4599: 4570:Alveolar rhabdomyosarcoma 4492: 4421: 4351: 4338: 4329: 4305:XYYYY syndrome (49,XYYYY) 4271:XXXXY syndrome (49,XXXXY) 4266:XXXYY syndrome (49,XXXYY) 4228: 4210: 4196: 4005: 3898: 3889: 3803: 3729: 3678:. Virginia Isaacs Cover. 3024:Human Reproduction Update 2611:10.1186/s40348-020-0093-x 2399:10.1016/j.gde.2006.04.004 2157:10.3238/arztebl.2013.0347 1757:10.1017/S1355617701744013 1087:rarediseases.info.nih.gov 1050:10.3389/fgene.2021.724625 865:and E. C. Reifenstein at 778:of KS cases are found by 472:(i.e., small testicles). 324: 316: 303: 285: 277: 260: 248: 230: 222: 211: 179: 138: 126: 72: 64: 55: 47: 42: 4045:Wolf–Hirschhorn syndrome 4020:1q21.1 deletion syndrome 3883:Chromosome abnormalities 2937:Il Giornale di Chirurgia 2646:Leask K (October 2005). 2139:Nieschlag E (May 2013). 1623:10.3389/frph.2021.629673 1361:Southern Medical Journal 947:Sex chromosome anomalies 883:Western General Hospital 581: 30:Not to be confused with 4429:Philadelphia chromosome 4300:XYYY syndrome (48,XYYY) 4261:XXXY syndrome (48,XXXY) 4256:XXYY syndrome (48,XXYY) 4141:22q13 deletion syndrome 3916:2q31.1 microduplication 3711:considered for deletion 2682:Fertility and Sterility 2510:Fertility and Sterility 2389:. Genetics of disease. 1991:10.1016/C2011-0-05225-0 1661:Fertility and Sterility 1329:National Health Service 1295:Genetics Home Reference 647:pseudoautosomal regions 455:Physical manifestations 190:intellectual disability 4288:Pentasomy X (49,XXXXX) 4220:Turner syndrome (45,X) 4101:Smith–Magenis syndrome 4097:Miller–Dieker syndrome 4032:1p36 deletion syndrome 3614:Clinical Endocrinology 2648:"Klinefelter syndrome" 2284:10.1210/jc.2002-021491 2239:. NIH. July 10, 2023. 1936:Psychosomatic Medicine 1793:"Klinefelter syndrome" 1552:"Klinefelter Syndrome" 1529:"Klinefelter Syndrome" 1503:"Early Pregnancy Loss" 1398:"Klinefelter Syndrome" 1325:"Klinefelter syndrome" 1291:"Klinefelter syndrome" 1144:10.1186/1750-1172-1-42 1083:"Klinefelter syndrome" 847:in vitro fertilization 838: 714:level, but high serum 622:event during paternal 611: 599: 556:cardiovascular disease 4295:XYY syndrome (47,XYY) 4283:Tetrasomy X (48,XXXX) 4166:Prader–Willi syndrome 3124:10.1210/jcem-2-11-615 3088:10.1093/humrep/dep431 3037:10.1093/humupd/dmx008 2434:10.1542/peds.96.4.672 2328:10.1093/molehr/gaq019 2207:10.1210/er.2017-00212 2040:10.1542/peds.96.2.302 1803:on September 27, 2007 1710:10.1542/peds.81.6.795 1037:Frontiers in Genetics 871:Boston, Massachusetts 834: 827:Infertility treatment 605: 589: 493:Cognitive development 359:chromosomal disorders 4387:Mantle cell lymphoma 4057:Cri du chat syndrome 3840:Klinefelter syndrome 3717:Klinefelter syndrome 3573:10.1192/bjo.2022.176 2913:10.1210/jc.2012-2382 2869:10.1210/jc.2005-1077 2828:10.1210/jc.2004-0777 2723:Journal of Andrology 1331:. 20 February 2023. 879:John Anderson Strong 817:occupational therapy 731:seminiferous tubules 540:autoimmune disorders 339:Klinefelter syndrome 194:autoimmune disorders 170:less interest in sex 146:above average height 43:Klinefelter syndrome 4697:Intersex variations 4373:Follicular lymphoma 3514:Journal of Glaucoma 3471:Clinical Pediatrics 3375:10.1017/eaa.2021.30 3222:1959Natur.183..302J 2428:(4 Pt 1): 672–682. 2115:10.1530/EJE-15-1025 2075:Anticancer Research 2034:(2 Pt 1): 302–308. 1840:2018PLoSO..1306932S 1562:on 27 November 2012 1301:. 30 October 2012. 1008:. 25 October 2013. 887:Edinburgh, Scotland 720:luteinizing hormone 534:Concomitant illness 499:executive functions 255:Older age of mother 166:small testicle size 4612:Uniparental disomy 4607:Fragile X syndrome 4542:Myxoid liposarcoma 4394:t(11 CCND1:14 IGH) 4278:Trisomy X (47,XXX) 4156:genomic imprinting 3936:Distal trisomy 10q 3804:External resources 3620:(1). Wiley: 3–12. 3309:(10353): 691–692. 3075:Human Reproduction 2768:Prenatal Diagnosis 2461:Sexual Development 1887:Brain and Behavior 839: 813:behavioral therapy 780:prenatal diagnosis 612: 600: 571:X-linked recessive 392:Signs and symptoms 4692:Genetic anomalies 4674: 4673: 4626:Marker chromosome 4595: 4594: 4488: 4487: 4325: 4324: 4192: 4191: 4162:Angelman syndrome 4117:DiGeorge syndrome 4085:Jacobsen syndrome 4073:Williams syndrome 3849: 3848: 3685:978-0-615-57400-4 3669:Cover VI (2012). 3626:10.1111/cen.14734 3442:(7199): 406–408. 3216:(4657): 302–303. 2969:. December 2016. 2862:(12): 6516–6522. 2473:10.1159/000327324 2194:Endocrine Reviews 2081:(6D): 4293–4297. 935:transgender women 859:Harry Klinefelter 657:The condition 48, 366:Harry Klinefelter 345:), also known as 336: 335: 331:Harry Klinefelter 262:Diagnostic method 154:poor coordination 37:Medical condition 16:(Redirected from 4714: 4707:1940s neologisms 4617:XX male syndrome 4514:Synovial sarcoma 4391:Multiple myeloma 4359:Burkitt lymphoma 4349: 4348: 4336: 4335: 4239:other karyotypes 4208: 4207: 3990:Cat-eye syndrome 3896: 3895: 3876: 3869: 3862: 3853: 3852: 3727: 3726: 3714: 3689: 3677: 3656: 3655: 3645: 3601: 3595: 3594: 3592: 3552: 3546: 3545: 3509: 3503: 3502: 3466: 3460: 3459: 3431: 3425: 3424: 3404: 3398: 3397: 3387: 3377: 3351: 3345: 3344: 3326: 3297: 3291: 3290: 3280: 3256: 3250: 3249: 3230:10.1038/183302a0 3205: 3196: 3195: 3193: 3192: 3167:Odom SL (2009). 3164: 3158: 3157: 3155: 3153: 3144:. Archived from 3142:Biomedsearch.com 3134: 3128: 3127: 3107: 3101: 3100: 3090: 3066: 3060: 3059: 3049: 3039: 3015: 3009: 3008: 3006: 3004: 2995:. medscape.com. 2988: 2982: 2981: 2979: 2978: 2959: 2953: 2952: 2943:(6–7): 250–252. 2932: 2926: 2925: 2915: 2891: 2882: 2881: 2871: 2847: 2841: 2840: 2830: 2821:(8): 3830–3834. 2806: 2800: 2799: 2763: 2757: 2756: 2738: 2714: 2708: 2707: 2697: 2673: 2667: 2666: 2664: 2663: 2643: 2634: 2633: 2623: 2613: 2589: 2583: 2582: 2554: 2548: 2547: 2545: 2543: 2525: 2501: 2492: 2491: 2489: 2487: 2452: 2446: 2445: 2417: 2411: 2410: 2382: 2376: 2375: 2347: 2341: 2340: 2330: 2306: 2297: 2296: 2286: 2262: 2253: 2252: 2250: 2248: 2229: 2220: 2219: 2209: 2185: 2179: 2178: 2168: 2136: 2127: 2126: 2097: 2091: 2090: 2066: 2060: 2059: 2023: 2017: 2016: 2014: 2012: 1979:Conn PM (2013). 1976: 1970: 1969: 1959: 1927: 1921: 1920: 1910: 1899:10.1002/brb3.645 1878: 1872: 1871: 1861: 1851: 1834:(11): e0206932. 1819: 1813: 1812: 1810: 1808: 1799:. Archived from 1788: 1777: 1776: 1736: 1730: 1729: 1693: 1687: 1686: 1676: 1652: 1646: 1645: 1635: 1625: 1601: 1595: 1594: 1578: 1572: 1571: 1569: 1567: 1548: 1537: 1536: 1524: 1518: 1517: 1515: 1513: 1498: 1492: 1491: 1489: 1487: 1468: 1462: 1461: 1425: 1414: 1413: 1411: 1409: 1394: 1385: 1384: 1367:(9): 1089–1093. 1356: 1345: 1344: 1342: 1340: 1321: 1315: 1314: 1312: 1310: 1287: 1281: 1280: 1278: 1276: 1261: 1255: 1254: 1252: 1250: 1235: 1229: 1228: 1226: 1224: 1209: 1198: 1197: 1195: 1193: 1178: 1167: 1166: 1156: 1146: 1122: 1103: 1102: 1100: 1098: 1079: 1073: 1072: 1062: 1052: 1028: 1022: 1021: 1019: 1017: 998: 900:, north-eastern 630:, also known as 413: 404: 290:Physical therapy 144:Varied; include 133:Medical genetics 118: 117: 114: 113: 110: 107: 104: 101: 98: 95: 92: 89: 86: 60: 40: 39: 21: 4722: 4721: 4717: 4716: 4715: 4713: 4712: 4711: 4677: 4676: 4675: 4670: 4631:Ring chromosome 4591: 4484: 4417: 4321: 4237: 4224: 4188: 4001: 3900: 3885: 3880: 3850: 3845: 3844: 3799: 3798: 3738: 3699: 3696: 3686: 3675: 3665: 3663:Further reading 3660: 3659: 3604:Liang, Bonnie; 3602: 3598: 3553: 3549: 3510: 3506: 3477:(12): 639–651. 3467: 3463: 3432: 3428: 3405: 3401: 3352: 3348: 3298: 3294: 3257: 3253: 3206: 3199: 3190: 3188: 3181: 3165: 3161: 3151: 3149: 3136: 3135: 3131: 3118:(11): 615–624. 3108: 3104: 3067: 3063: 3016: 3012: 3002: 3000: 2989: 2985: 2976: 2974: 2961: 2960: 2956: 2933: 2929: 2892: 2885: 2848: 2844: 2807: 2803: 2764: 2760: 2715: 2711: 2674: 2670: 2661: 2659: 2644: 2637: 2590: 2586: 2555: 2551: 2541: 2539: 2502: 2495: 2485: 2483: 2453: 2449: 2418: 2414: 2383: 2379: 2348: 2344: 2307: 2300: 2263: 2256: 2246: 2244: 2231: 2230: 2223: 2186: 2182: 2151:(20): 347–353. 2137: 2130: 2098: 2094: 2067: 2063: 2024: 2020: 2010: 2008: 2001: 1977: 1973: 1928: 1924: 1879: 1875: 1820: 1816: 1806: 1804: 1789: 1780: 1737: 1733: 1694: 1690: 1653: 1649: 1602: 1598: 1587:U.S. Pharmacist 1579: 1575: 1565: 1563: 1550: 1549: 1540: 1525: 1521: 1511: 1509: 1499: 1495: 1485: 1483: 1470: 1469: 1465: 1426: 1417: 1407: 1405: 1400:. Mayo Clinic. 1396: 1395: 1388: 1357: 1348: 1338: 1336: 1323: 1322: 1318: 1308: 1306: 1289: 1288: 1284: 1274: 1272: 1263: 1262: 1258: 1248: 1246: 1237: 1236: 1232: 1222: 1220: 1211: 1210: 1201: 1191: 1189: 1180: 1179: 1170: 1123: 1106: 1096: 1094: 1081: 1080: 1076: 1029: 1025: 1015: 1013: 1000: 999: 995: 990: 972:Turner syndrome 943: 931:gender identity 918: 875:Patricia Jacobs 863:Fuller Albright 855: 829: 801: 792: 759: 751:spermatogenesis 704: 695: 689: 676: 655: 584: 564:type 2 diabetes 536: 519: 495: 490: 457: 448: 431: 430: 429: 428: 416: 415: 414: 406: 405: 394: 363:endocrinologist 311:life expectancy 267:Genetic testing 122: 83: 79: 38: 35: 28: 23: 22: 15: 12: 11: 5: 4720: 4710: 4709: 4704: 4699: 4694: 4689: 4672: 4671: 4669: 4668: 4667: 4666: 4628: 4623: 4614: 4609: 4603: 4601: 4597: 4596: 4593: 4592: 4590: 4589: 4567: 4553: 4539: 4525: 4511: 4496: 4494: 4490: 4489: 4486: 4485: 4483: 4482: 4468: 4454: 4440: 4425: 4423: 4419: 4418: 4416: 4415: 4410: 4396: 4384: 4370: 4355: 4353: 4346: 4333: 4331:Translocations 4327: 4326: 4323: 4322: 4320: 4319: 4314: 4308: 4307: 4302: 4297: 4291: 4290: 4285: 4280: 4274: 4273: 4268: 4263: 4258: 4253: 4247: 4245: 4226: 4225: 4223: 4222: 4216: 4214: 4205: 4194: 4193: 4190: 4189: 4187: 4186: 4176: 4175: 4174: 4173: 4151: 4150: 4149: 4148: 4138: 4137: 4136: 4126: 4125: 4124: 4114: 4113: 4112: 4094: 4093: 4092: 4082: 4081: 4080: 4070: 4069: 4068: 4054: 4053: 4052: 4042: 4041: 4040: 4011: 4009: 4003: 4002: 4000: 3999: 3998: 3997: 3987: 3982: 3977: 3976: 3975: 3965: 3960: 3955: 3950: 3949: 3948: 3941:Patau syndrome 3938: 3933: 3928: 3923: 3918: 3913: 3907: 3905: 3893: 3887: 3886: 3879: 3878: 3871: 3864: 3856: 3847: 3846: 3843: 3842: 3831: 3820: 3808: 3807: 3805: 3801: 3800: 3797: 3796: 3785: 3774: 3759: 3739: 3734: 3733: 3731: 3730:Classification 3724: 3723: 3695: 3694:External links 3692: 3691: 3690: 3684: 3664: 3661: 3658: 3657: 3606:Cheung, Ada S. 3596: 3547: 3504: 3461: 3426: 3399: 3346: 3292: 3271:(5): 689–698. 3251: 3197: 3179: 3159: 3129: 3102: 3081:(3): 588–597. 3061: 3030:(3): 265–275. 3010: 2983: 2967:nichd.nih.gov/ 2954: 2939:(in Italian). 2927: 2883: 2842: 2801: 2774:(4): 363–368. 2758: 2709: 2688:(4): 950–955. 2668: 2635: 2584: 2565:(4): 331–337. 2549: 2516:(4): 950–955. 2493: 2467:(3): 109–123. 2447: 2412: 2393:(3): 233–239. 2377: 2342: 2321:(6): 386–395. 2298: 2277:(2): 622–626. 2254: 2221: 2200:(4): 389–423. 2180: 2128: 2109:(1): R27–R40. 2092: 2061: 2018: 1999: 1971: 1942:(7): 629–640. 1922: 1873: 1814: 1778: 1751:(4): 446–456. 1731: 1704:(6): 795–806. 1688: 1667:(4): 875–879. 1647: 1596: 1573: 1538: 1519: 1493: 1463: 1415: 1386: 1346: 1316: 1282: 1256: 1230: 1199: 1168: 1104: 1074: 1023: 992: 991: 989: 986: 985: 984: 979: 974: 969: 964: 959: 954: 949: 942: 939: 917: 914: 910:Suontaka sword 854: 851: 828: 825: 800: 797: 791: 788: 758: 755: 703: 700: 693:X-inactivation 691:Main article: 688: 685: 675: 672: 654: 651: 643:X inactivation 620:nondisjunction 592:nondisjunction 583: 580: 535: 532: 518: 515: 494: 491: 489: 486: 470:microorchidism 456: 453: 447: 444: 418: 417: 408: 407: 399: 398: 397: 396: 395: 393: 390: 334: 333: 328: 322: 321: 318: 314: 313: 309:Nearly normal 307: 301: 300: 287: 283: 282: 279: 275: 274: 264: 258: 257: 252: 246: 245: 235:Nondisjunction 232: 228: 227: 224: 220: 219: 213: 209: 208: 183: 177: 176: 158:less body hair 150:weaker muscles 142: 136: 135: 130: 124: 123: 121: 120: 76: 74: 70: 69: 62: 61: 53: 52: 49: 45: 44: 36: 26: 9: 6: 4: 3: 2: 4719: 4708: 4705: 4703: 4700: 4698: 4695: 4693: 4690: 4688: 4685: 4684: 4682: 4665: 4661: 4657: 4653: 4649: 4645: 4641: 4637: 4634: 4633: 4632: 4629: 4627: 4624: 4622: 4618: 4615: 4613: 4610: 4608: 4605: 4604: 4602: 4598: 4587: 4583: 4579: 4575: 4571: 4568: 4565: 4561: 4557: 4554: 4551: 4547: 4543: 4540: 4537: 4533: 4529: 4526: 4523: 4519: 4515: 4512: 4509: 4505: 4501: 4500:Ewing sarcoma 4498: 4497: 4495: 4491: 4480: 4476: 4472: 4469: 4466: 4462: 4458: 4455: 4452: 4448: 4444: 4441: 4438: 4434: 4430: 4427: 4426: 4424: 4420: 4414: 4411: 4408: 4404: 4400: 4397: 4395: 4392: 4388: 4385: 4382: 4378: 4374: 4371: 4368: 4364: 4360: 4357: 4356: 4354: 4350: 4347: 4345: 4341: 4337: 4334: 4332: 4328: 4318: 4315: 4313: 4310: 4309: 4306: 4303: 4301: 4298: 4296: 4293: 4292: 4289: 4286: 4284: 4281: 4279: 4276: 4275: 4272: 4269: 4267: 4264: 4262: 4259: 4257: 4254: 4252: 4249: 4248: 4246: 4244: 4240: 4235: 4231: 4227: 4221: 4218: 4217: 4215: 4213: 4209: 4206: 4203: 4199: 4195: 4185: 4184:Proximal 18q- 4181: 4178: 4177: 4171: 4167: 4163: 4160: 4159: 4158: 4157: 4153: 4152: 4147: 4144: 4143: 4142: 4139: 4135: 4132: 4131: 4130: 4127: 4123: 4120: 4119: 4118: 4115: 4111: 4108: 4107: 4106: 4102: 4098: 4095: 4091: 4088: 4087: 4086: 4083: 4079: 4076: 4075: 4074: 4071: 4067: 4064: 4063: 4062: 4058: 4055: 4051: 4048: 4047: 4046: 4043: 4039: 4036: 4035: 4033: 4029: 4025: 4021: 4017: 4013: 4012: 4010: 4008: 4004: 3996: 3993: 3992: 3991: 3988: 3986: 3983: 3981: 3978: 3974: 3971: 3970: 3969: 3968:Down syndrome 3966: 3964: 3961: 3959: 3956: 3954: 3951: 3947: 3944: 3943: 3942: 3939: 3937: 3934: 3932: 3929: 3927: 3924: 3922: 3919: 3917: 3914: 3912: 3909: 3908: 3906: 3904: 3899:Duplications, 3897: 3894: 3892: 3888: 3884: 3877: 3872: 3870: 3865: 3863: 3858: 3857: 3854: 3841: 3837: 3836: 3832: 3830: 3826: 3825: 3821: 3819: 3815: 3814: 3810: 3809: 3806: 3802: 3795: 3791: 3790: 3786: 3784: 3780: 3779: 3775: 3773: 3769: 3768: 3764: 3760: 3758: 3754: 3750: 3749: 3745: 3741: 3740: 3737: 3732: 3728: 3722: 3718: 3712: 3708: 3707: 3703: 3698: 3697: 3687: 3681: 3674: 3673: 3667: 3666: 3653: 3649: 3644: 3639: 3635: 3631: 3627: 3623: 3619: 3615: 3611: 3607: 3600: 3591: 3586: 3582: 3578: 3574: 3570: 3566: 3562: 3558: 3551: 3543: 3539: 3535: 3531: 3527: 3523: 3519: 3515: 3508: 3500: 3496: 3492: 3488: 3484: 3480: 3476: 3472: 3465: 3457: 3453: 3449: 3445: 3441: 3437: 3430: 3422: 3418: 3415:(5C): 71–80. 3414: 3410: 3403: 3395: 3391: 3386: 3381: 3376: 3371: 3367: 3363: 3362: 3357: 3350: 3342: 3338: 3334: 3330: 3325: 3320: 3316: 3312: 3308: 3304: 3296: 3288: 3284: 3279: 3274: 3270: 3266: 3262: 3255: 3247: 3243: 3239: 3235: 3231: 3227: 3223: 3219: 3215: 3211: 3204: 3202: 3186: 3182: 3180:9781606232484 3176: 3172: 3171: 3163: 3148:on 2017-08-27 3147: 3143: 3139: 3133: 3125: 3121: 3117: 3113: 3106: 3098: 3094: 3089: 3084: 3080: 3076: 3072: 3065: 3057: 3053: 3048: 3043: 3038: 3033: 3029: 3025: 3021: 3014: 2998: 2994: 2991:Harold Chen. 2987: 2972: 2968: 2964: 2958: 2950: 2946: 2942: 2938: 2931: 2923: 2919: 2914: 2909: 2905: 2901: 2897: 2890: 2888: 2879: 2875: 2870: 2865: 2861: 2857: 2853: 2846: 2838: 2834: 2829: 2824: 2820: 2816: 2812: 2805: 2797: 2793: 2789: 2785: 2781: 2777: 2773: 2769: 2762: 2754: 2750: 2746: 2742: 2737: 2732: 2728: 2724: 2720: 2713: 2705: 2701: 2696: 2691: 2687: 2683: 2679: 2672: 2658:on 2007-09-27 2657: 2653: 2649: 2642: 2640: 2631: 2627: 2622: 2617: 2612: 2607: 2603: 2599: 2595: 2588: 2580: 2576: 2572: 2568: 2564: 2560: 2553: 2537: 2533: 2529: 2524: 2519: 2515: 2511: 2507: 2500: 2498: 2482: 2478: 2474: 2470: 2466: 2462: 2458: 2451: 2443: 2439: 2435: 2431: 2427: 2423: 2416: 2408: 2404: 2400: 2396: 2392: 2388: 2381: 2373: 2369: 2365: 2361: 2357: 2353: 2346: 2338: 2334: 2329: 2324: 2320: 2316: 2312: 2305: 2303: 2294: 2290: 2285: 2280: 2276: 2272: 2268: 2261: 2259: 2242: 2238: 2234: 2228: 2226: 2217: 2213: 2208: 2203: 2199: 2195: 2191: 2184: 2176: 2172: 2167: 2162: 2158: 2154: 2150: 2146: 2142: 2135: 2133: 2124: 2120: 2116: 2112: 2108: 2104: 2096: 2088: 2084: 2080: 2076: 2072: 2065: 2057: 2053: 2049: 2045: 2041: 2037: 2033: 2029: 2022: 2006: 2002: 2000:9780124159129 1996: 1992: 1988: 1984: 1983: 1975: 1967: 1963: 1958: 1953: 1949: 1945: 1941: 1937: 1933: 1926: 1918: 1914: 1909: 1904: 1900: 1896: 1893:(3): e00645. 1892: 1888: 1884: 1877: 1869: 1865: 1860: 1855: 1850: 1845: 1841: 1837: 1833: 1829: 1825: 1818: 1802: 1798: 1794: 1787: 1785: 1783: 1774: 1770: 1766: 1762: 1758: 1754: 1750: 1746: 1742: 1735: 1727: 1723: 1719: 1715: 1711: 1707: 1703: 1699: 1692: 1684: 1680: 1675: 1670: 1666: 1662: 1658: 1651: 1643: 1639: 1634: 1629: 1624: 1619: 1615: 1611: 1607: 1600: 1592: 1588: 1584: 1577: 1561: 1557: 1553: 1547: 1545: 1543: 1534: 1530: 1523: 1508: 1504: 1497: 1481: 1477: 1476:nichd.nih.gov 1473: 1467: 1459: 1455: 1451: 1447: 1443: 1439: 1435: 1431: 1424: 1422: 1420: 1403: 1399: 1393: 1391: 1382: 1378: 1374: 1370: 1366: 1362: 1355: 1353: 1351: 1334: 1330: 1326: 1320: 1304: 1300: 1296: 1292: 1286: 1270: 1266: 1260: 1244: 1240: 1234: 1218: 1214: 1208: 1206: 1204: 1187: 1183: 1177: 1175: 1173: 1164: 1160: 1155: 1150: 1145: 1140: 1136: 1132: 1128: 1121: 1119: 1117: 1115: 1113: 1111: 1109: 1092: 1088: 1084: 1078: 1070: 1066: 1061: 1056: 1051: 1046: 1042: 1038: 1034: 1027: 1011: 1007: 1003: 997: 993: 983: 982:XXYY syndrome 980: 978: 975: 973: 970: 968: 965: 963: 960: 958: 955: 953: 950: 948: 945: 944: 938: 936: 932: 927: 923: 922:ethnic groups 913: 911: 907: 903: 899: 894: 892: 888: 884: 880: 876: 872: 868: 864: 860: 850: 848: 844: 837: 833: 824: 822: 818: 814: 809: 807: 804:present, the 796: 787: 783: 781: 776: 772: 768: 764: 754: 752: 748: 744: 740: 736: 735:Sertoli cells 732: 727: 725: 721: 717: 713: 709: 699: 694: 684: 681: 671: 668: 664: 660: 650: 648: 644: 639: 635: 633: 632:gametogenesis 629: 625: 621: 616: 610:in the female 609: 604: 597: 593: 588: 579: 577: 572: 567: 565: 561: 557: 553: 549: 545: 544:breast cancer 541: 531: 527: 523: 514: 511: 506: 504: 500: 485: 483: 477: 473: 471: 467: 466:breast tissue 461: 452: 443: 441: 437: 426: 422: 412: 403: 389: 387: 383: 378: 374: 369: 367: 364: 360: 356: 352: 348: 344: 340: 332: 329: 327: 323: 320:1 in 500–1000 319: 315: 312: 308: 306: 302: 299: 295: 291: 288: 284: 280: 276: 272: 268: 265: 263: 259: 256: 253: 251: 247: 244: 240: 239:gametogenesis 236: 233: 229: 225: 221: 218: 217:fertilisation 214: 210: 207: 203: 199: 198:breast cancer 195: 191: 187: 184: 182: 181:Complications 178: 175: 171: 167: 163: 162:breast growth 159: 155: 151: 147: 143: 141: 137: 134: 131: 129: 125: 116: 78: 77: 75: 73:Pronunciation 71: 68: 63: 59: 54: 50: 46: 41: 33: 19: 4250: 4154: 4028:TAR syndrome 3931:Tetrasomy 9p 3833: 3822: 3811: 3787: 3776: 3761: 3742: 3704: 3671: 3617: 3613: 3599: 3564: 3561:BJPsych Open 3560: 3550: 3520:(5): e7–e8. 3517: 3513: 3507: 3474: 3470: 3464: 3439: 3435: 3429: 3412: 3408: 3402: 3385:10138/340641 3365: 3359: 3349: 3324:10316/101524 3306: 3302: 3295: 3268: 3264: 3254: 3213: 3209: 3189:. Retrieved 3169: 3162: 3150:. Retrieved 3146:the original 3141: 3132: 3115: 3111: 3105: 3078: 3074: 3064: 3047:2318/1633550 3027: 3023: 3013: 3001:. Retrieved 2986: 2975:. Retrieved 2966: 2957: 2940: 2936: 2930: 2906:(1): 20–30. 2903: 2899: 2859: 2855: 2845: 2818: 2814: 2804: 2771: 2767: 2761: 2729:(1): 41–48. 2726: 2722: 2712: 2685: 2681: 2671: 2660:. Retrieved 2656:the original 2651: 2601: 2597: 2587: 2562: 2558: 2552: 2540:. Retrieved 2513: 2509: 2484:. Retrieved 2464: 2460: 2450: 2425: 2421: 2415: 2390: 2386: 2380: 2358:(1): 69–92. 2355: 2351: 2345: 2318: 2314: 2274: 2270: 2245:. Retrieved 2237:Medline Plus 2236: 2197: 2193: 2183: 2148: 2144: 2106: 2102: 2095: 2078: 2074: 2064: 2031: 2027: 2021: 2009:. Retrieved 1981: 1974: 1939: 1935: 1925: 1890: 1886: 1876: 1831: 1827: 1817: 1807:November 29, 1805:. Retrieved 1801:the original 1796: 1748: 1744: 1734: 1701: 1697: 1691: 1664: 1660: 1650: 1613: 1609: 1599: 1590: 1586: 1576: 1566:November 28, 1564:. Retrieved 1560:the original 1555: 1532: 1522: 1510:. Retrieved 1506: 1496: 1484:. Retrieved 1475: 1466: 1433: 1429: 1406:. Retrieved 1364: 1360: 1337:. Retrieved 1319: 1307:. Retrieved 1294: 1285: 1273:. Retrieved 1259: 1247:. Retrieved 1233: 1221:. Retrieved 1190:. Retrieved 1134: 1130: 1095:. Retrieved 1086: 1077: 1040: 1036: 1026: 1014:. Retrieved 996: 977:XYY syndrome 962:Taurodontism 919: 916:Epidemiology 895: 856: 840: 810: 802: 793: 784: 760: 747:testosterone 739:Leydig cells 728: 712:testosterone 708:hypogonadism 705: 702:Pathogenesis 696: 677: 656: 640: 636: 617: 613: 568: 560:dyslipidemia 552:osteoporosis 537: 528: 524: 520: 508:The overall 507: 496: 478: 474: 462: 458: 449: 436:gynecomastia 432: 382:genetic test 373:Y chromosome 370: 351:X chromosome 346: 342: 338: 337: 250:Risk factors 206:osteoporosis 32:XYY syndrome 4317:46,XX/46,XY 4234:tetrasomies 4180:Distal 18q- 3813:MedlinePlus 3003:4 September 2011:February 9, 1436:: 135–144. 811:The use of 775:spermiogram 763:lymphocytes 598:in the male 460:their age. 386:karyotyping 377:chromosomes 326:Named after 212:Usual onset 186:Infertility 174:infertility 48:Other names 4681:Categories 4312:45,X/46,XY 4212:Monosomies 3985:Trisomy 22 3963:Trisomy 18 3953:Trisomy 16 3901:including 3835:Patient UK 3191:2017-09-02 2977:2020-07-14 2662:2007-04-07 2422:Pediatrics 2247:January 2, 2028:Pediatrics 1698:Pediatrics 1430:Metabolism 1339:29 January 1309:2 November 1043:: 724625. 988:References 952:Aneuploidy 926:prevalence 891:aneuploidy 706:The term " 653:Variations 628:meiosis II 608:meiosis II 298:counseling 278:Prevention 4230:Trisomies 4007:Deletions 3926:Trisomy 9 3921:Trisomy 8 3903:trisomies 3891:Autosomal 3824:eMedicine 3794:405770005 3789:SNOMED CT 3709:is being 3634:0300-0664 3581:2056-4724 3394:1461-9571 3341:251817711 3152:26 August 1773:145642384 1408:27 August 967:Trisomy X 821:dyspraxia 799:Treatment 790:Prognosis 771:mosaicism 767:Barr body 757:Diagnosis 674:Mosaicism 624:meiosis I 596:meiosis I 384:known as 355:testicles 317:Frequency 305:Prognosis 286:Treatment 271:karyotype 128:Specialty 67:karyotype 4352:Lymphoid 4344:lymphoma 4340:Leukemia 3829:ped/1252 3702:template 3652:35394664 3542:30565002 3534:22274665 3499:43040200 3491:11771918 3456:13764957 3333:36030812 3246:38349997 3238:13632697 3185:Archived 3097:20085911 3056:28379559 2997:Archived 2971:Archived 2949:12422780 2922:23118429 2878:16204366 2837:15292313 2796:25935518 2753:25133531 2745:12514081 2704:24502895 2630:31974854 2604:(1): 1. 2579:16829354 2536:Archived 2532:24502895 2486:24 April 2481:21540567 2407:16650979 2372:16124854 2337:20228051 2293:12574191 2241:Archived 2216:29438472 2175:23825486 2123:26850445 2056:36072015 2005:Archived 1966:31232913 1917:28293480 1868:30412595 1828:PLOS ONE 1765:11396547 1726:26098458 1683:15482743 1642:36303983 1533:Medscape 1512:June 28, 1507:Medscape 1486:15 March 1480:Archived 1450:29382506 1402:Archived 1333:Archived 1303:Archived 1275:16 March 1269:Archived 1249:15 March 1243:Archived 1223:15 March 1217:Archived 1192:15 March 1186:Archived 1163:17062147 1097:15 April 1091:Archived 1069:34616429 1016:15 March 1010:Archived 957:Intersex 941:See also 924:, has a 902:Portugal 898:Bragança 722:levels, 576:carriers 503:autistic 446:Prenatal 241:or in a 226:Lifelong 223:Duration 140:Symptoms 4580:) t (1 4447:RUNX1T1 4422:Myeloid 4243:mosaics 3783:D007713 3643:9540025 3590:9378311 3287:6751075 3278:1685430 3218:Bibcode 2788:9160389 2621:6979883 2542:13 June 2442:7567329 2166:3674537 2087:9494523 2048:7630689 1957:6727927 1908:5346527 1859:6226182 1836:Bibcode 1718:3368277 1633:9580767 1458:3702209 1381:3529433 1154:1634840 1060:8488338 853:History 440:puberty 237:during 65:47,XXY 4532:COL1A1 4204:linked 3818:000382 3721:Curlie 3715:  3706:Curlie 3682:  3650:  3640:  3632:  3587:  3579:  3540:  3532:  3497:  3489:  3454:  3436:Lancet 3421:526617 3419:  3392:  3339:  3331:  3303:Lancet 3285:  3275:  3244:  3236:  3210:Nature 3177:  3095:  3054:  2947:  2920:  2876:  2835:  2794:  2786:  2751:  2743:  2702:  2628:  2618:  2577:  2530:  2479:  2440:  2405:  2370:  2335:  2291:  2214:  2173:  2163:  2121:  2085:  2054:  2046:  1997:  1964:  1954:  1915:  1905:  1866:  1856:  1771:  1763:  1724:  1716:  1681:  1640:  1630:  1456:  1448:  1379:  1161:  1151:  1137:: 42. 1067:  1057:  680:mosaic 661:or 48, 550:, and 425:nipple 421:biopsy 347:47,XXY 243:zygote 231:Causes 119: 4600:Other 4586:FOXO1 4584:; 13 4578:FOXO1 4576:; 13 4562:; 22 4558:t(11 4548:; 16 4546:DDIT3 4544:t(12 4536:PDGFB 4530:t(17 4506:; 22 4502:t(11 4493:Other 4475:RBM15 4459:t(15 4451:RUNX1 4435:; 22 4375:t(14 3772:758.7 3757:Q98.4 3753:Q98.0 3700:‹The 3676:(PDF) 3538:S2CID 3495:S2CID 3337:S2CID 3242:S2CID 2792:S2CID 2749:S2CID 2052:S2CID 1769:S2CID 1722:S2CID 1454:S2CID 667:XXXXY 582:Cause 482:sperm 4582:PAX7 4574:PAX3 4572:t(2 4534:;22 4520:;18 4516:t(x 4504:FLI1 4479:MKL1 4477:;22 4473:t(1 4465:RARA 4463:,17 4449:;21 4445:t(8 4431:t(9 4407:NPM1 4401:t(2 4381:BCL2 4379:;18 4365:;14 4361:t(8 3778:MeSH 3767:9-CM 3680:ISBN 3648:PMID 3630:ISSN 3577:ISSN 3530:PMID 3487:PMID 3452:PMID 3417:PMID 3390:ISSN 3329:PMID 3283:PMID 3234:PMID 3175:ISBN 3154:2017 3093:PMID 3052:PMID 3005:2012 2945:PMID 2918:PMID 2874:PMID 2833:PMID 2784:PMID 2741:PMID 2700:PMID 2626:PMID 2575:PMID 2544:2020 2528:PMID 2488:2024 2477:PMID 2438:PMID 2403:PMID 2368:PMID 2333:PMID 2289:PMID 2249:2024 2212:PMID 2171:PMID 2119:PMID 2083:PMID 2044:PMID 2013:2017 1995:ISBN 1962:PMID 1913:PMID 1864:PMID 1809:2023 1761:PMID 1714:PMID 1679:PMID 1638:PMID 1568:2023 1514:2024 1488:2015 1446:PMID 1410:2020 1377:PMID 1341:2024 1311:2012 1277:2015 1251:2015 1225:2015 1194:2015 1159:PMID 1099:2019 1065:PMID 1018:2015 877:and 745:and 737:and 718:and 663:XXXY 659:XXYY 562:and 281:None 4564:EWS 4560:WT1 4550:FUS 4522:SSX 4518:SYT 4508:EWS 4461:PML 4437:BCR 4433:ABL 4405:;5 4403:ALK 4377:IGH 4367:IGH 4363:MYC 3763:ICD 3744:ICD 3719:at 3638:PMC 3622:doi 3585:PMC 3569:doi 3522:doi 3479:doi 3444:doi 3380:hdl 3370:doi 3319:hdl 3311:doi 3307:400 3273:PMC 3226:doi 3214:183 3120:doi 3083:doi 3042:hdl 3032:doi 2908:doi 2864:doi 2823:doi 2776:doi 2731:doi 2690:doi 2686:101 2616:PMC 2606:doi 2567:doi 2518:doi 2514:101 2469:doi 2430:doi 2395:doi 2360:doi 2323:doi 2279:doi 2202:doi 2161:PMC 2153:doi 2149:110 2111:doi 2107:175 2036:doi 1987:doi 1952:PMC 1944:doi 1903:PMC 1895:doi 1854:PMC 1844:doi 1753:doi 1706:doi 1669:doi 1628:PMC 1618:doi 1438:doi 1369:doi 1149:PMC 1139:doi 1055:PMC 1045:doi 885:in 869:in 743:FSH 215:At 4683:: 4664:22 4662:, 4660:21 4658:; 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Index

Klinefelter's syndrome
XYY syndrome

karyotype
/ˈklnfɛltər/
Specialty
Medical genetics
Symptoms
above average height
weaker muscles
poor coordination
less body hair
breast growth
small testicle size
less interest in sex
infertility
Complications
Infertility
intellectual disability
autoimmune disorders
breast cancer
venous thromboembolic disease
osteoporosis
fertilisation
Nondisjunction
gametogenesis
zygote
Risk factors
Older age of mother
Diagnostic method

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