1000:
941:, specifically DNA-based methylation testing to detect the absence of the paternally contributed PWS/AS region on chromosome 15q11-q13. Such testing detects over 97% of cases. Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.
830:. Normally, a fetus inherits an imprinted maternal copy of PW genes and a functional paternal copy of PW genes. Due to imprinting, the maternally inherited copies of these genes are virtually silent, and the fetus therefore relies on the expression of the paternal copies of the genes. In PWS, however, there is mutation/deletion of the paternal copies of PW genes, leaving the fetus with no functioning PW genes. The PW genes are the
926:-like behaviors), small hands and feet, hypogonadism, and mild intellectual disability. However, with early diagnosis and early treatment (such as with growth hormone therapy), the prognosis for persons with PWS is beginning to change. Like autism, PWS is a spectrum disorder and symptoms can range from mild to severe and may change throughout the person's lifetime. Various organ systems are affected.
744:. Caregivers need to strictly limit the patients' access to food, usually by installing locks on refrigerators and on all closets and cabinets where food is stored. It is the most common genetic cause of morbid obesity in children. Currently, no consensus exists as to the cause for this symptom, although genetic abnormalities in chromosome 15 disrupt the normal functioning of the
317:
42:
957:
environment and extra help. The largest problem associated with the syndrome is severe obesity. Access to food must be strictly supervised and limited, usually by installing locks on all food-storage places including refrigerators. Physical activity in individuals with PWS for all ages is needed to optimize strength and promote a healthy lifestyle.
891:
The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder. The risk to siblings is <1% if the affected child has a gene deletion or uniparental disomy, up to 50% if the affected child has a mutation of the imprinting control region, and
956:
While PWS has no cure, several treatments are available to lessen the condition's symptoms. During infancy, subjects should undergo therapies to improve muscle strength. Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning
780:
Several aspects of PWS support the concept of a growth hormone deficiency. Specifically, individuals with PWS have short stature, are obese with abnormal body composition, have reduced fat-free mass, have reduced lean body mass and total energy expenditure, and have decreased bone density. PWS is
432:
PWS symptoms can range from poor muscle tone during infancy to behavioral problems in early childhood. Some symptoms often found in infants, besides poor muscle tone, are a lack of eye coordination; almond-shaped eyes; thin upper lip; and, due to poor muscle tone, lack of a strong sucking reflex.
767:
The main mental-health difficulties experienced by people with PWS include compulsive behaviour (usually manifested in skin picking) and anxiety. Psychiatric symptoms, for example, hallucinations, paranoia and depression, have been described in some cases and affect about 5–10% of young adults.
763:
levels, which are thought to contribute directly to the increased appetite, hyperphagia and obesity seen in this syndrome. Cassidy states the need for a clear delineation of behavioral expectations, the reinforcement of behavioural limits, and the establishment of regular routines.
706:
Cassidy found that 40% of individuals with PWS have borderline/low average intelligence, a figure higher than the 32% found in Curfs and Fryns' study. However, both studies suggest that most individuals (50–65%) fall within the mild/borderline/low average intelligence range.
929:
Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing; testing is recommended for newborns with pronounced hypotonia. Early diagnosis of PWS allows for early intervention and the early prescription of
771:
Typically 70–90% of affected individuals develop behavioral patterns in early childhood. Aspects of these patterns can include stubbornness, temper tantrums, controlling and manipulative behavior, difficulty with change in routine and compulsive-like behaviors.
862:
located in the region 15q11-13. This so-called PWS/AS region in the paternal chromosome 15 may be lost by one of several genetic mechanisms, which in the majority of instances occurs through chance mutation. Other, less common mechanisms include
436:
More aspects seen in a clinical overview include hypotonia and abnormal neurologic function, hypogonadism, developmental and cognitive delays, hyperphagia and obesity, short stature, and behavioral and psychiatric disturbances.
2055:
Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (April 1995). "Inherited microdeletions in the
Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15".
3117:
3102:
978:
Behavior and psychiatric problems should be detected early for the best results. These issues are best when treated with parental education and training. Sometimes medication is introduced, as well.
2564:
de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI (June 2009).
2142:"Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain"
975:
machine is often needed. A person who has been diagnosed with PWS may have to undergo surgical procedures. One surgery that has proven to be unsuccessful for treating the obesity is gastric bypass.
710:
Children with PWS show an unusual cognitive profile. They are often strong in visual organization and perception, including reading and vocabulary, but their spoken language (sometimes affected by
386:, or in early development. No risk factors are known for the disorder. Those who have one child with PWS have less than a 1% chance of the next child being affected. A similar mechanism occurs in
2521:
Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U (2005). "Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models".
1769:
Boer, H; Holland, A; Whittington, J; Butler, J; Webb, T; Clarke, D (January 12, 2002). "Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy".
934:. Daily recombinant growth hormone (GH) injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain.
960:
Prescription of daily recombinant GH injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain.
1734:
Whittington J, Holland A, Webb T, Butler J, Clarke D, Boer H (February 2004). "Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome".
359:
and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are
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1015:
Despite its rarity, PWS has been often referenced in popular culture, partly due to curiosity surrounding the insatiable appetite and the obesity symptomatic of the syndrome.
820:
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2103:
1024:
The syndrome has been depicted and documented several times in television. A fictional individual with PWS featured in the episode "Dog Eat Dog" of the television series
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1215:
1248:
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in females. Testes may descend with time or can be managed with surgery or testosterone replacement. Adrenarche may be treated with hormone replacement therapy.
1337:
1274:
888:) within the same region on the maternal chromosome causes AS. PWS and AS represent the first reported instances of disorders related to imprinting in humans.
2319:
Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome".
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393:
Prader–Willi syndrome has no cure. Treatment may improve outcomes, especially if carried out early. In newborns, feeding difficulties may be supported with
4058:
1172:
2886:"Case Study: Cataplexy and SOREMPs Without Excessive Daytime Sleepiness in Prader Willi Syndrome. Is This the Beginning of Narcolepsy in a Five Year Old?"
4038:
4034:
3272:
2247:"Prader-Willi Syndrome - MeSH - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. November 1, 2016. <
1304:
2986:
2765:
Höybye C, Hilding A, Jacobsson H, Thorén M (May 2003). "Growth hormone treatment improves body composition in adults with Prader-Willi syndrome".
768:
Patients are also often extremely stubborn and prone to anger. Psychiatric and behavioural problems are the most common cause of hospitalization.
2650:"What are the symptoms of Prader-Willi syndrome (PWS)? | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development"
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699:
Individuals with PWS are at risk of learning and attention difficulties. Curfs and Fryns (1992) conducted research into the varying degrees of
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of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through
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PWS is frequently associated with a constant insatiable appetite, which persists no matter how much the patient eats, often resulting in
3016:
2635:
1417:
3039:
2189:
Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (December 2000).
3265:
1857:
721:
Auditory information processing and sequential processing are relatively poor, as are arithmetic and writing skills, visual and
420:
who, together with Alexis
Labhart, described it in detail in 1956. An earlier description was made in 1887 by British physician
2964:
2912:
2099:
1500:
Holm, V. A.; Cassidy, S. B.; Butler, M. G.; Hanchett, J. M.; Greenswag, L. R.; Whitman, B. Y.; Greenberg, F. (February 1993).
366:
About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has
3075:
2629:
1578:
Curfs LM, Fryns JP (1992). "Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile".
1401:
1370:
2566:"A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism"
2289:
397:. Strict food supervision is typically required, starting around the age of three, in combination with an exercise program.
347:, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to
4123:
1817:
1207:
882:(AS). While PWS results from the loss of PW genes within this region on the paternal chromosome, loss of a different gene (
1115:
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3132:
2124:
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regulates many basic processes, including appetite, a link may well exist. In the hypothalamus, nerve cells that produce
2253:
1240:
3258:
1054:
rebuild a home for a family whose youngest son, Ethan
Starkweather, was living with the syndrome. In a 2012 episode of
1036:
3944:
2191:"Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization"
1329:
923:
922:
It is traditionally characterized by hypotonia, short stature, hyperphagia, obesity, behavioral issues (specifically
2889:
1935:
Cummings DE, Clement K, Purnell JQ, Vaisse C, Foster KE, Frayo RS, Schwartz MW, Basdevant A, Weigle DS (July 2002).
1270:
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on the
Discovery Health channel, Conor Heybach, who has Prader–Willi syndrome, shared how he was diagnosed with it.
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Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J (2007).
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1042:
1026:
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Feeding therapy, physical therapy, occupational therapy, strict food supervision, exercise program, counseling
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3414:
944:
PWS is often misdiagnosed due to its unfamiliarity in the medical community. Sometimes it is misdiagnosed as
2413:
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008).
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911:
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851:
2415:"Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster"
412:
PWS affects between 1 in 10,000 to 30,000 people worldwide. The condition is named after Swiss physicians
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1004:
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characterized by hypogonadism. This is manifested as undescended testes in males and benign premature
257:
There are three main molecular mechanisms that result in PWS: paternal deletion, maternal UPD 15, and
4245:
3968:
3930:
3729:
2858:
4209:
3418:
3143:
2020:
Hered RW, Rogers S, Zang YF, Biglan AW (1988). "Ophthalmologic features of Prader-Willi syndrome".
972:
631:
2276:
Cassidy, SB; Dykens, E (2000). "Prader-Willi and
Angelman syndromes: sister imprinted disorders".
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Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
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230:
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1040:, surrounding the everyday lives of two people with PWS, Joe and Tamara. In a 2010 episode of
903:
in one family of the snoRNA HBII-52 has excluded it from playing a major role in the disease.
756:, a hormone thought to contribute to satiety, are believed to be abnormal in people with PWS.
4201:
4178:
4133:
2617:
2364:"Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation"
1885:
991:
PWS affects one in 10,000 to one in 25,000 newborns. More than 400,000 people live with PWS.
859:
729:. These sometimes improve with age, but deficits in these areas remain throughout adulthood.
390:, except the defective chromosome 15 is from the mother, or two copies are from the father.
4115:
3785:
3710:
3649:
3455:
3012:
2677:"Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome"
2475:
2464:"SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice"
2202:
2100:"Major breakthrough in understanding Prader-Willi syndrome, a parental imprinting disorder"
1685:
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993).
983:
agonists have been most effective in lessening temper tantrums and improving compulsivity.
544:(excessive hunger) begins between the ages of 2 and 8, and continues throughout adulthood.
440:
The following features and signs are indicators of PWS, although not all will be present:
8:
3958:
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3405:
3121:
700:
3216:
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2414:
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2301:
2166:
2141:
2081:
1964:
1910:
1794:
1711:
1686:
1636:
1611:
1534:
1501:
1477:
1452:
1074:
864:
827:
808:
402:
371:
367:
258:
212:
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2001:
Cassidy SB, Devi A, Mukaida C (1994). "Aging in PWS: 232 patients over age 30 years".
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1782:
4186:
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3560:
3515:
3483:
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2395:
2336:
2293:
2230:
2225:
2190:
2171:
2073:
2037:
1982:
Clark DJ, Boer H, Webb T (1995). "General and behavioural aspects of PWS: a review".
1956:
1902:
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1716:
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1587:
1539:
1521:
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Studies of human and mouse model systems have shown deletion of the 29 copies of the
879:
547:
421:
387:
277:
202:
2920:
2675:
Davies PS, Evans S, Broomhead S, Clough H, Day JM, Laidlaw A, Barnes ND (May 1998).
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2348:
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1914:
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999:
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2434:
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1968:
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1513:
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893:
332:
269:
151:
108:
62:
2033:
1898:
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Some individuals (often those with deletions) may have hypopigmented fundi due to
4029:
3618:
3148:
3064:
3043:
2488:
2380:
938:
749:
552:
352:
2462:
Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U (March 2008).
3703:
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3159:
1107:
931:
872:
741:
726:
722:
528:
485:
457:
417:
3227:
3111:
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2332:
948:, simply because of the relative frequency of Down syndrome compared to PWS.
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3568:
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3532:
3520:
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3393:
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1051:
945:
900:
715:
714:) is generally poorer than their comprehension. A marked skill in completing
711:
684:
413:
336:
2808:
Scheimann, AO; Butler, MG; Gourash, L; Cuffari, C; Klish, W (January 2008).
374:, they end up with no working copies of certain genes. PWS is not generally
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3464:
3448:
3436:
3426:
3329:
3250:
2843:
2786:
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2742:
2726:"Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study"
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2507:
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1069:
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511:
406:
360:
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3831:
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3211:
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1952:
1241:"How many people are affected/at risk for Prader-Willi syndrome (PWS)?"
837:
794:
782:
541:
516:
295:
3094:
1668:"Prader-Willi syndrome: Psychological and behavioural characteristics"
3676:
3632:
3324:
3319:
3200:
3165:
1031:
980:
868:
798:
592:
Constipation or swollen stomachs owing to poor muscle tone in the gut
522:
479:
468:
344:
221:
2810:"Critical analysis of bariatric procedures in Prader-Willi syndrome"
1936:
378:, but rather the genetic changes happen during the formation of the
3792:
3742:
3738:
3610:
3289:
3233:
2430:
2290:
10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v
2157:
1881:"The Oxytocin Receptor System: Structure, Function, and Regulation"
1850:"What Is Prader-Willi Syndrome? What Causes Prader-Willi Syndrome?"
968:
753:
474:
375:
2140:
de los Santos T, Schweizer J, Rees CA, Francke U (November 2000).
3845:
3628:
3301:
3170:
2139:
907:
760:
718:
has been noted, but this may be an effect of increased practice.
563:
348:
340:
3137:
2943:"Katie Price considers residential care for disabled son Harvey"
35:
Prader–Labhart–Willi-Fanconi syndrome Prader-Willi-Down syndrome
3106:
3079:
2128:
1079:
843:
2188:
892:
up to 25% if a parental chromosomal translocation is present.
850:, SNORD107, SNORD108 and two copies of SNORD109, 29 copies of
169:
126:
80:
3934:
3873:
3849:
3779:
2807:
1451:
Cassidy, Suzanne B; Driscoll, Daniel J (September 10, 2008).
884:
383:
163:
74:
2764:
2412:
1934:
1768:
1733:
1390:
Jorde, Lynn B.; Carey, John C.; Bamshad, Michael J. (2015).
797:. In one study, over 50% of patients had strabismus, mainly
241:
occurs at or near the time of conception for unknown reasons
3980:
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3916:
3902:
3877:
3805:
3775:
3765:
2563:
2361:
819:
805:
186:
140:
120:
97:
16:
Rare genetic disorder involving an imprinted genomic region
2674:
2054:
1818:"What are the treatments for Prader-Willi syndrome (PWS)?"
1208:"What are the treatments for Prader-Willi syndrome (PWS)?"
1030:, which aired in the US on 24 November 2005. In July 2007
433:
Their cries are weak, and they have difficulty waking up.
3761:
1937:"Elevated plasma ghrelin levels in Prader Willi syndrome"
1684:
1499:
657:
Excess fat, especially in the central portion of the body
596:
379:
180:
134:
91:
2724:
Carrel AL, Myers SE, Whitman BY, Allen DB (April 2002).
2318:
484:
Feeding difficulties (due to poor muscle tone affecting
405:
and medications may help with some behavioral problems.
4105:
2723:
316:
1687:"Prader-Willi syndrome: consensus diagnostic criteria"
1502:"Prader-Willi syndrome: consensus diagnostic criteria"
41:
2520:
2019:
1396:(5 ed.). Elsevier Health Sciences. p. 120.
896:
is possible for any of the known genetic mechanisms.
177:
131:
3084:
826:
PWS is related to an epigenetic phenomenon known as
672:
Light skin and hair relative to other family members
183:
166:
160:
157:
137:
123:
117:
114:
94:
88:
77:
71:
68:
3013:"Extreme Makeover: Home Edition Articles on AOL TV"
2859:"Shawn Cooper Struggles with Prader Willi Syndrome"
2814:
Journal of
Pediatric Gastroenterology and Nutrition
174:
154:
111:
85:
65:
2461:
2000:
1330:"Is there a cure for Prader-Willi syndrome (PWS)?"
335:caused by a loss of function of specific genes on
2910:
1389:
1021:'s son Harvey is one well-known person with PWS.
4227:
320:Eight-year-old patient with a severe form of PWS
1878:
1450:
793:PWS is commonly associated with development of
1605:
1603:
1601:
1573:
1571:
878:Region 15q11-13 is implicated in both PWS and
589:Tooth decay owing to underproduction of saliva
4091:
4020:46,XX testicular disorders of sex development
3266:
2611:
2609:
2275:
1981:
1812:
1810:
1808:
651:Small hands and feet with tapering of fingers
3280:
2455:
1928:
1843:
1841:
1839:
1235:
1233:
1202:
1200:
1198:
1196:
1194:
1192:
1190:
3842:Acute myeloblastic leukemia with maturation
2888:. European Society of Sleep Technologists.
2048:
1736:Journal of Intellectual Disability Research
1598:
1568:
1324:
1322:
4098:
4084:
3273:
3259:
2606:
1805:
1609:
1577:
1446:
1444:
1442:
1440:
1438:
1422:Prader-Willi Syndrome, Symptoms and Causes
1159:
1157:
1155:
1153:
1102:
1100:
914:(HBII-85) to be the primary cause of PWS.
40:
2833:
2741:
2700:
2589:
2497:
2487:
2438:
2389:
2379:
2224:
2214:
2165:
1847:
1836:
1710:
1635:
1533:
1476:
1271:"Prader-Willi Syndrome (PWS): Other FAQs"
1230:
1187:
1151:
1149:
1147:
1145:
1143:
1141:
1139:
1137:
1135:
1133:
1879:Fahrenholz, Falk; Gimpl, Gerald (2001).
1661:
1659:
1657:
1655:
1379:from the original on September 11, 2017.
1365:. American Academic Press. p. 195.
1319:
998:
315:
3019:from the original on September 23, 2015
2615:
1848:Nordqvist, Christian (March 15, 2010).
1665:
1435:
1097:
963:Because of severe obesity, obstructive
4228:
2911:Catherine Deveney (February 5, 2006).
2883:
2865:from the original on September 9, 2009
1418:"Mayo Clinic, Diseases and Conditions"
1130:
994:
858:(HBII-52). These genes are located on
732:PWS may be associated with psychosis.
641:
4079:
3254:
2856:
2256:from the original on November 3, 2016
2250:"Prader-Willi Syndrome - MeSH - NCBI"
1860:from the original on January 16, 2013
1652:
508:Delayed milestones/intellectual delay
491:Difficulties establishing respiration
443:
427:
4124:Transient neonatal diabetes mellitus
2989:. Channel4.com. 2006. Archived from
1340:from the original on August 27, 2016
1307:from the original on August 27, 2016
1251:from the original on August 27, 2016
1218:from the original on August 10, 2016
1175:from the original on August 27, 2016
1118:from the original on August 21, 2016
3955:Desmoplastic small-round-cell tumor
2892:from the original on April 13, 2009
2857:Tweed, Katherine (September 2009).
2638:from the original on June 29, 2014.
2125:Online Mendelian Inheritance in Man
2106:from the original on April 28, 2015
1358:
675:Lack of complete sexual development
207:Genetics, endocrinology, pediatrics
13:
4236:Autosomal monosomies and deletions
2826:10.1097/01.mpg.0000304458.30294.31
2146:American Journal of Human Genetics
2129:Prader-Willi Syndrome; PWS - 17627
1670:. Contact a Family. Archived from
1558:"Prader-Willi syndrome - Symptoms"
1457:European Journal of Human Genetics
1277:from the original on July 27, 2016
818:
654:Soft skin, which is easily bruised
583:Unusually fair hair, skin and eyes
409:are often necessary in adulthood.
14:
4287:
3052:
2967:from the original on June 4, 2009
2622:Principles of Molecular Pathology
1824:from the original on July 6, 2016
1011:, a girl presumed to have had PWS
788:
694:
3528:22q11.2 distal deletion syndrome
2779:10.1046/j.1365-2265.2003.01769.x
1748:10.1111/j.1365-2788.2004.00556.x
1362:Classical and Molecular Genetics
1108:"Prader-Labhardt-Willi syndrome"
1034:aired a 2006 documentary called
453:Frequent abnormal fetal position
224:, poor feeding, slow development
150:
107:
61:
3927:Dermatofibrosarcoma protuberans
3870:Acute megakaryoblastic leukemia
3798:Anaplastic large-cell lymphoma
3460:Chromosome 5q deletion syndrome
3031:
3005:
2979:
2953:
2935:
2904:
2877:
2850:
2801:
2758:
2717:
2668:
2642:
2557:
2514:
2406:
2355:
2312:
2269:
2241:
2182:
2133:
2118:
2092:
2022:J Pediatr Ophthalmol Strabismus
2013:
1994:
1975:
1872:
1762:
1727:
1678:
1550:
1493:
1410:
986:
610:Infertility (males and females)
4214:Pseudopseudohypoparathyroidism
2003:Proc. Greenwood Genetic Centre
1580:Birth Defects Orig. Artic. Ser
1383:
1352:
1289:
1263:
1043:Extreme Makeover: Home Edition
1027:CSI: Crime Scene Investigation
842:genes, along with clusters of
748:. Given that the hypothalamic
571:Narrow forehead at the temples
1:
3650:Klinefelter syndrome (47,XXY)
3415:1q21.1 copy number variations
2034:10.3928/0191-3913-19880501-10
1899:10.1152/physrev.2001.81.2.629
1856:. MediLexicon International.
1783:10.1016/S0140-6736(02)07340-3
1090:
937:The mainstay of diagnosis is
924:obsessive–compulsive disorder
735:
525:(often not detected at birth)
3856:Acute promyelocytic leukemia
3812:Acute lymphoblastic leukemia
3504:17q12 microdeletion syndrome
3379:22q11.2 duplication syndrome
3357:16p11.2 duplication syndrome
2624:. Humana Press. p. 41.
2616:Killeen, Anthony A. (2004).
2489:10.1371/journal.pone.0001709
2381:10.1371/journal.pgen.0030235
2195:Proc. Natl. Acad. Sci. U.S.A
951:
917:
775:
603:
501:
49:15-year-old patient with PWS
7:
4146:Beckwith–Wiedemann syndrome
3423:1q21.1 duplication syndrome
3310:1q21.1 duplication syndrome
1616:Journal of Medical Genetics
1273:. NICHD. January 14, 2014.
1063:
854:(HBII-85) and 48 copies of
814:
624:Hypotonia (low muscle tone)
10:
4292:
2730:J. Clin. Endocrinol. Metab
759:People with PWS have high
723:auditory short-term memory
538:Poor physical coordination
460:(excessive amniotic fluid)
4200:
4177:
4160:
4141:
4132:
4114:
3998:
3969:Alveolar rhabdomyosarcoma
3891:
3820:
3750:
3737:
3728:
3704:XYYYY syndrome (49,XYYYY)
3670:XXXXY syndrome (49,XXXXY)
3665:XXXYY syndrome (49,XXXYY)
3627:
3609:
3595:
3404:
3297:
3288:
3180:
3088:
2535:10.1007/s00335-005-2460-2
2333:10.1007/s00439-004-1219-2
1666:Udwin O (November 1998).
689:Delayed motor development
310:1 in 15,000–20,000 people
306:
294:
286:
276:
265:
253:
245:
237:
211:
201:
53:
48:
39:
31:
26:
4210:Pseudohypoparathyroidism
3444:Wolf–Hirschhorn syndrome
3419:1q21.1 deletion syndrome
3282:Chromosome abnormalities
1009:Eugenia Martínez Vallejo
973:positive airway pressure
632:type 2 diabetes mellitus
401:also improves outcomes.
272:(typically new mutation)
4150:Silver–Russell syndrome
3828:Philadelphia chromosome
3699:XYYY syndrome (48,XYYY)
3660:XXXY syndrome (48,XXXY)
3655:XXYY syndrome (48,XXYY)
3540:22q13 deletion syndrome
3315:2q31.1 microduplication
3070:considered for deletion
1612:"Prader-Willi syndrome"
1453:"Prader–Willi syndrome"
1169:Genetics Home Reference
1165:"Prader-Willi syndrome"
1005:Juan Carreño de Miranda
361:unable to have children
357:intellectual impairment
231:intellectual impairment
4276:Syndromes with obesity
4271:Rare genetic syndromes
3687:Pentasomy X (49,XXXXX)
3619:Turner syndrome (45,X)
3500:Smith–Magenis syndrome
3496:Miller–Dieker syndrome
3431:1p36 deletion syndrome
3042:July 14, 2014, at the
2743:10.1210/jcem.87.4.8414
2216:10.1073/pnas.250426397
1984:Mental Health Research
1359:Mia, Md Mohan (2016).
1301:Genetic Home Reference
1085:Smith-Magenis syndrome
1012:
875:, and gene deletions.
823:
648:Prominent nasal bridge
450:Reduced fetal movement
399:Growth hormone therapy
321:
301:Growth hormone therapy
233:, behavioural problems
4191:Prader-Willi syndrome
3694:XYY syndrome (47,XYY)
3682:Tetrasomy X (48,XXXX)
3565:Prader–Willi syndrome
3228:Prader-Willi syndrome
3217:Prader–Willi syndrome
3076:Prader–Willi syndrome
2913:"Two faces of Jordan"
2618:"Genetic Inheritance"
2102:. Medicalxpress.com.
1886:Physiological Reviews
1703:10.1542/peds.91.2.398
1628:10.1136/jmg.34.11.917
1518:10.1542/peds.91.2.398
1469:10.1038/ejhg.2008.165
1002:
822:
660:High, narrow forehead
548:Excessive weight gain
325:Prader–Willi syndrome
319:
229:: constantly hungry,
27:Prader–Willi syndrome
4241:Congenital disorders
3786:Mantle cell lymphoma
3456:Cri du chat syndrome
2919:. UK. Archived from
2693:10.1136/adc.78.5.474
1336:. January 14, 2014.
1247:. January 14, 2014.
1214:. January 14, 2014.
586:Small hands and feet
4266:Intersex variations
3772:Follicular lymphoma
2987:"Can't Stop Eating"
2949:. February 6, 2019.
2923:on February 5, 2007
2656:. December 29, 2021
2480:2008PLoSO...3.1709D
2207:2000PNAS...9714311C
1610:Cassidy SB (1997).
1564:. October 23, 2017.
1297:"Angelman syndrome"
1003:A 1680 painting by
995:Society and culture
701:learning disability
642:Physical appearance
636:Extreme flexibility
568:Extreme flexibility
355:. Mild to moderate
343:, symptoms include
4165:Myoclonic dystonia
4108:genomic imprinting
4011:Uniparental disomy
4006:Fragile X syndrome
3941:Myxoid liposarcoma
3793:t(11 CCND1:14 IGH)
3677:Trisomy X (47,XXX)
3555:genomic imprinting
3335:Distal trisomy 10q
3181:External resources
2582:10.1093/hmg/ddp263
2070:10.1038/ng0495-395
1953:10.1038/nm0702-643
1854:Medical News Today
1075:Genomic imprinting
1013:
865:uniparental disomy
824:
809:haploinsufficiency
669:Almond-shaped eyes
574:Narrow nose bridge
512:Excessive sleeping
444:In-utero and birth
428:Signs and symptoms
322:
4256:Genetic anomalies
4251:Genetic syndromes
4223:
4222:
4187:Angelman syndrome
4173:
4172:
4106:Disorders due to
4073:
4072:
4025:Marker chromosome
3994:
3993:
3887:
3886:
3724:
3723:
3591:
3590:
3561:Angelman syndrome
3516:DiGeorge syndrome
3484:Jacobsen syndrome
3472:Williams syndrome
3248:
3247:
2654:www.nichd.nih.gov
2631:978-1-58829-085-4
1674:on July 16, 2011.
1403:978-0-323-18837-1
1372:978-1-63181-776-2
1057:Mystery Diagnosis
1037:Can't Stop Eating
880:Angelman syndrome
618:Sparse pubic hair
422:John Langdon Down
388:Angelman syndrome
314:
313:
278:Diagnostic method
21:Medical condition
4283:
4246:Eating disorders
4139:
4138:
4100:
4093:
4086:
4077:
4076:
4016:XX male syndrome
3913:Synovial sarcoma
3790:Multiple myeloma
3758:Burkitt lymphoma
3748:
3747:
3735:
3734:
3638:other karyotypes
3607:
3606:
3389:Cat-eye syndrome
3295:
3294:
3275:
3268:
3261:
3252:
3251:
3086:
3085:
3073:
3046:
3035:
3029:
3028:
3026:
3024:
3009:
3003:
3002:
3000:
2998:
2993:on July 25, 2009
2983:
2977:
2976:
2974:
2972:
2963:. Csifiles.com.
2957:
2951:
2950:
2939:
2933:
2932:
2930:
2928:
2908:
2902:
2901:
2899:
2897:
2881:
2875:
2874:
2872:
2870:
2854:
2848:
2847:
2837:
2805:
2799:
2798:
2767:Clin. Endocrinol
2762:
2756:
2755:
2745:
2721:
2715:
2714:
2704:
2681:Arch. Dis. Child
2672:
2666:
2665:
2663:
2661:
2646:
2640:
2639:
2613:
2604:
2603:
2593:
2561:
2555:
2554:
2518:
2512:
2511:
2501:
2491:
2459:
2453:
2452:
2442:
2410:
2404:
2403:
2393:
2383:
2359:
2353:
2352:
2316:
2310:
2309:
2273:
2267:
2265:
2263:
2261:
2245:
2239:
2238:
2228:
2218:
2186:
2180:
2179:
2169:
2137:
2131:
2122:
2116:
2115:
2113:
2111:
2096:
2090:
2089:
2052:
2046:
2045:
2017:
2011:
2010:
1998:
1992:
1991:
1979:
1973:
1972:
1932:
1926:
1925:
1923:
1921:
1876:
1870:
1869:
1867:
1865:
1845:
1834:
1833:
1831:
1829:
1814:
1803:
1802:
1766:
1760:
1759:
1742:(Pt 2): 172–87.
1731:
1725:
1724:
1714:
1682:
1676:
1675:
1663:
1650:
1649:
1639:
1607:
1596:
1595:
1575:
1566:
1565:
1554:
1548:
1547:
1537:
1497:
1491:
1490:
1480:
1448:
1433:
1432:
1430:
1428:
1414:
1408:
1407:
1393:Medical Genetics
1387:
1381:
1380:
1356:
1350:
1349:
1347:
1345:
1326:
1317:
1316:
1314:
1312:
1293:
1287:
1286:
1284:
1282:
1267:
1261:
1260:
1258:
1256:
1237:
1228:
1227:
1225:
1223:
1204:
1185:
1184:
1182:
1180:
1161:
1128:
1127:
1125:
1123:
1104:
894:Prenatal testing
666:Downturned mouth
580:Downturned mouth
333:genetic disorder
270:Genetic disorder
193:
192:
189:
188:
185:
182:
179:
176:
172:
171:
168:
165:
162:
159:
156:
147:
146:
143:
142:
139:
136:
133:
129:
128:
125:
122:
119:
116:
113:
104:
103:
100:
99:
96:
93:
90:
87:
83:
82:
79:
76:
73:
70:
67:
44:
24:
23:
4291:
4290:
4286:
4285:
4284:
4282:
4281:
4280:
4226:
4225:
4224:
4219:
4196:
4169:
4156:
4153:
4128:
4110:
4104:
4074:
4069:
4030:Ring chromosome
3990:
3883:
3816:
3720:
3636:
3623:
3587:
3400:
3299:
3284:
3279:
3249:
3244:
3243:
3176:
3175:
3097:
3058:
3055:
3050:
3049:
3044:Wayback Machine
3036:
3032:
3022:
3020:
3011:
3010:
3006:
2996:
2994:
2985:
2984:
2980:
2970:
2968:
2959:
2958:
2954:
2941:
2940:
2936:
2926:
2924:
2909:
2905:
2895:
2893:
2882:
2878:
2868:
2866:
2855:
2851:
2806:
2802:
2763:
2759:
2722:
2718:
2673:
2669:
2659:
2657:
2648:
2647:
2643:
2632:
2614:
2607:
2576:(17): 3257–65.
2570:Hum. Mol. Genet
2562:
2558:
2519:
2515:
2460:
2456:
2411:
2407:
2360:
2356:
2317:
2313:
2274:
2270:
2259:
2257:
2248:
2246:
2242:
2201:(26): 14311–6.
2187:
2183:
2138:
2134:
2123:
2119:
2109:
2107:
2098:
2097:
2093:
2058:Nature Genetics
2053:
2049:
2018:
2014:
1999:
1995:
1980:
1976:
1941:Nature Medicine
1933:
1929:
1919:
1917:
1877:
1873:
1863:
1861:
1846:
1837:
1827:
1825:
1816:
1815:
1806:
1777:(9301): 135–6.
1767:
1763:
1732:
1728:
1683:
1679:
1664:
1653:
1608:
1599:
1576:
1569:
1556:
1555:
1551:
1498:
1494:
1449:
1436:
1426:
1424:
1416:
1415:
1411:
1404:
1388:
1384:
1373:
1357:
1353:
1343:
1341:
1328:
1327:
1320:
1310:
1308:
1295:
1294:
1290:
1280:
1278:
1269:
1268:
1264:
1254:
1252:
1239:
1238:
1231:
1221:
1219:
1206:
1205:
1188:
1178:
1176:
1163:
1162:
1131:
1121:
1119:
1106:
1105:
1098:
1093:
1066:
997:
989:
954:
939:genetic testing
920:
817:
791:
778:
750:arcuate nucleus
738:
725:, and auditory
697:
692:
644:
639:
606:
601:
557:Delayed puberty
553:Sleep disorders
504:
499:
446:
430:
353:type 2 diabetes
282:Genetic testing
249:Entire lifespan
225:
197:
173:
153:
149:
130:
110:
106:
84:
64:
60:
22:
17:
12:
11:
5:
4289:
4279:
4278:
4273:
4268:
4263:
4261:Genodermatoses
4258:
4253:
4248:
4243:
4238:
4221:
4220:
4218:
4217:
4206:
4204:
4198:
4197:
4195:
4194:
4183:
4181:
4175:
4174:
4171:
4170:
4168:
4167:
4161:
4158:
4157:
4155:
4154:
4142:
4136:
4130:
4129:
4127:
4126:
4120:
4118:
4112:
4111:
4103:
4102:
4095:
4088:
4080:
4071:
4070:
4068:
4067:
4066:
4065:
4027:
4022:
4013:
4008:
4002:
4000:
3996:
3995:
3992:
3991:
3989:
3988:
3966:
3952:
3938:
3924:
3910:
3895:
3893:
3889:
3888:
3885:
3884:
3882:
3881:
3867:
3853:
3839:
3824:
3822:
3818:
3817:
3815:
3814:
3809:
3795:
3783:
3769:
3754:
3752:
3745:
3732:
3730:Translocations
3726:
3725:
3722:
3721:
3719:
3718:
3713:
3707:
3706:
3701:
3696:
3690:
3689:
3684:
3679:
3673:
3672:
3667:
3662:
3657:
3652:
3646:
3644:
3625:
3624:
3622:
3621:
3615:
3613:
3604:
3593:
3592:
3589:
3588:
3586:
3585:
3575:
3574:
3573:
3572:
3550:
3549:
3548:
3547:
3537:
3536:
3535:
3525:
3524:
3523:
3513:
3512:
3511:
3493:
3492:
3491:
3481:
3480:
3479:
3469:
3468:
3467:
3453:
3452:
3451:
3441:
3440:
3439:
3410:
3408:
3402:
3401:
3399:
3398:
3397:
3396:
3386:
3381:
3376:
3375:
3374:
3364:
3359:
3354:
3349:
3348:
3347:
3340:Patau syndrome
3337:
3332:
3327:
3322:
3317:
3312:
3306:
3304:
3292:
3286:
3285:
3278:
3277:
3270:
3263:
3255:
3246:
3245:
3242:
3241:
3230:
3219:
3208:
3197:
3185:
3184:
3182:
3178:
3177:
3174:
3173:
3162:
3151:
3140:
3129:
3114:
3098:
3093:
3092:
3090:
3089:Classification
3083:
3082:
3054:
3053:External links
3051:
3048:
3047:
3030:
3004:
2978:
2952:
2934:
2903:
2876:
2861:. AOL Health.
2849:
2800:
2757:
2716:
2667:
2641:
2630:
2605:
2556:
2513:
2454:
2431:10.1038/ng.158
2405:
2354:
2311:
2284:(2): 136–146.
2278:Am J Med Genet
2268:
2240:
2181:
2158:10.1086/303106
2152:(5): 1067–82.
2132:
2117:
2091:
2064:(4): 395–400.
2047:
2012:
1993:
1974:
1927:
1893:(2): 629–683.
1871:
1835:
1804:
1761:
1726:
1697:(2): 398–402.
1677:
1651:
1622:(11): 917–23.
1597:
1567:
1549:
1512:(2): 398–402.
1492:
1434:
1409:
1402:
1382:
1371:
1351:
1318:
1288:
1262:
1229:
1186:
1129:
1095:
1094:
1092:
1089:
1088:
1087:
1082:
1077:
1072:
1065:
1062:
996:
993:
988:
985:
953:
950:
932:growth hormone
919:
916:
873:translocations
816:
813:
790:
789:Ophthalmologic
787:
777:
774:
742:morbid obesity
737:
734:
727:attention span
716:jigsaw puzzles
703:found in PWS.
696:
695:Neurocognitive
693:
691:
690:
687:
682:
676:
673:
670:
667:
664:
661:
658:
655:
652:
649:
645:
643:
640:
638:
637:
634:
628:
625:
622:
619:
616:
611:
607:
605:
602:
600:
599:
595:Low levels of
593:
590:
587:
584:
581:
578:
577:Thin upper lip
575:
572:
569:
566:
561:
558:
555:
550:
545:
539:
536:
531:
529:Cryptorchidism
526:
520:
519:(crossed eyes)
514:
509:
505:
503:
500:
498:
497:
492:
489:
486:sucking reflex
482:
477:
472:
461:
458:polyhydramnios
454:
451:
447:
445:
442:
429:
426:
418:Heinrich Willi
312:
311:
308:
304:
303:
298:
292:
291:
288:
284:
283:
280:
274:
273:
267:
263:
262:
255:
251:
250:
247:
243:
242:
239:
235:
234:
215:
209:
208:
205:
199:
198:
196:
195:
57:
55:
51:
50:
46:
45:
37:
36:
33:
29:
28:
20:
15:
9:
6:
4:
3:
2:
4288:
4277:
4274:
4272:
4269:
4267:
4264:
4262:
4259:
4257:
4254:
4252:
4249:
4247:
4244:
4242:
4239:
4237:
4234:
4233:
4231:
4215:
4211:
4208:
4207:
4205:
4203:
4202:Chromosome 20
4199:
4192:
4188:
4185:
4184:
4182:
4180:
4179:Chromosome 15
4176:
4166:
4163:
4162:
4159:
4151:
4147:
4144:
4143:
4140:
4137:
4135:
4134:Chromosome 11
4131:
4125:
4122:
4121:
4119:
4117:
4113:
4109:
4101:
4096:
4094:
4089:
4087:
4082:
4081:
4078:
4064:
4060:
4056:
4052:
4048:
4044:
4040:
4036:
4033:
4032:
4031:
4028:
4026:
4023:
4021:
4017:
4014:
4012:
4009:
4007:
4004:
4003:
4001:
3997:
3986:
3982:
3978:
3974:
3970:
3967:
3964:
3960:
3956:
3953:
3950:
3946:
3942:
3939:
3936:
3932:
3928:
3925:
3922:
3918:
3914:
3911:
3908:
3904:
3900:
3899:Ewing sarcoma
3897:
3896:
3894:
3890:
3879:
3875:
3871:
3868:
3865:
3861:
3857:
3854:
3851:
3847:
3843:
3840:
3837:
3833:
3829:
3826:
3825:
3823:
3819:
3813:
3810:
3807:
3803:
3799:
3796:
3794:
3791:
3787:
3784:
3781:
3777:
3773:
3770:
3767:
3763:
3759:
3756:
3755:
3753:
3749:
3746:
3744:
3740:
3736:
3733:
3731:
3727:
3717:
3714:
3712:
3709:
3708:
3705:
3702:
3700:
3697:
3695:
3692:
3691:
3688:
3685:
3683:
3680:
3678:
3675:
3674:
3671:
3668:
3666:
3663:
3661:
3658:
3656:
3653:
3651:
3648:
3647:
3645:
3643:
3639:
3634:
3630:
3626:
3620:
3617:
3616:
3614:
3612:
3608:
3605:
3602:
3598:
3594:
3584:
3583:Proximal 18q-
3580:
3577:
3576:
3570:
3566:
3562:
3559:
3558:
3557:
3556:
3552:
3551:
3546:
3543:
3542:
3541:
3538:
3534:
3531:
3530:
3529:
3526:
3522:
3519:
3518:
3517:
3514:
3510:
3507:
3506:
3505:
3501:
3497:
3494:
3490:
3487:
3486:
3485:
3482:
3478:
3475:
3474:
3473:
3470:
3466:
3463:
3462:
3461:
3457:
3454:
3450:
3447:
3446:
3445:
3442:
3438:
3435:
3434:
3432:
3428:
3424:
3420:
3416:
3412:
3411:
3409:
3407:
3403:
3395:
3392:
3391:
3390:
3387:
3385:
3382:
3380:
3377:
3373:
3370:
3369:
3368:
3367:Down syndrome
3365:
3363:
3360:
3358:
3355:
3353:
3350:
3346:
3343:
3342:
3341:
3338:
3336:
3333:
3331:
3328:
3326:
3323:
3321:
3318:
3316:
3313:
3311:
3308:
3307:
3305:
3303:
3298:Duplications,
3296:
3293:
3291:
3287:
3283:
3276:
3271:
3269:
3264:
3262:
3257:
3256:
3253:
3240:
3236:
3235:
3231:
3229:
3225:
3224:
3220:
3218:
3214:
3213:
3209:
3207:
3203:
3202:
3198:
3196:
3192:
3191:
3187:
3186:
3183:
3179:
3172:
3168:
3167:
3163:
3161:
3157:
3156:
3152:
3150:
3146:
3145:
3141:
3139:
3135:
3134:
3130:
3128:
3124:
3123:
3119:
3115:
3113:
3109:
3108:
3104:
3100:
3099:
3096:
3091:
3087:
3081:
3077:
3071:
3067:
3066:
3062:
3057:
3056:
3045:
3041:
3038:
3034:
3018:
3015:. Aoltv.com.
3014:
3008:
2992:
2988:
2982:
2966:
2962:
2961:"Dog Eat Dog"
2956:
2948:
2944:
2938:
2922:
2918:
2914:
2907:
2891:
2887:
2880:
2864:
2860:
2853:
2845:
2841:
2836:
2831:
2827:
2823:
2819:
2815:
2811:
2804:
2796:
2792:
2788:
2784:
2780:
2776:
2773:(5): 653–61.
2772:
2768:
2761:
2753:
2749:
2744:
2739:
2736:(4): 1581–5.
2735:
2731:
2727:
2720:
2712:
2708:
2703:
2698:
2694:
2690:
2686:
2682:
2678:
2671:
2655:
2651:
2645:
2637:
2633:
2627:
2623:
2619:
2612:
2610:
2601:
2597:
2592:
2587:
2583:
2579:
2575:
2571:
2567:
2560:
2552:
2548:
2544:
2540:
2536:
2532:
2529:(6): 424–31.
2528:
2524:
2517:
2509:
2505:
2500:
2495:
2490:
2485:
2481:
2477:
2473:
2469:
2465:
2458:
2450:
2446:
2441:
2436:
2432:
2428:
2425:(6): 719–21.
2424:
2420:
2416:
2409:
2401:
2397:
2392:
2387:
2382:
2377:
2373:
2369:
2365:
2358:
2350:
2346:
2342:
2338:
2334:
2330:
2327:(3): 228–30.
2326:
2322:
2315:
2307:
2303:
2299:
2295:
2291:
2287:
2283:
2279:
2272:
2255:
2251:
2244:
2236:
2232:
2227:
2222:
2217:
2212:
2208:
2204:
2200:
2196:
2192:
2185:
2177:
2173:
2168:
2163:
2159:
2155:
2151:
2147:
2143:
2136:
2130:
2126:
2121:
2105:
2101:
2095:
2087:
2083:
2079:
2075:
2071:
2067:
2063:
2059:
2051:
2043:
2039:
2035:
2031:
2028:(3): 145–50.
2027:
2023:
2016:
2008:
2004:
1997:
1990:(195): 38–49.
1989:
1985:
1978:
1970:
1966:
1962:
1958:
1954:
1950:
1946:
1942:
1938:
1931:
1916:
1912:
1908:
1904:
1900:
1896:
1892:
1888:
1887:
1882:
1875:
1859:
1855:
1851:
1844:
1842:
1840:
1823:
1819:
1813:
1811:
1809:
1800:
1796:
1792:
1788:
1784:
1780:
1776:
1772:
1765:
1757:
1753:
1749:
1745:
1741:
1737:
1730:
1722:
1718:
1713:
1708:
1704:
1700:
1696:
1692:
1688:
1681:
1673:
1669:
1662:
1660:
1658:
1656:
1647:
1643:
1638:
1633:
1629:
1625:
1621:
1617:
1613:
1606:
1604:
1602:
1593:
1589:
1586:(1): 99–104.
1585:
1581:
1574:
1572:
1563:
1559:
1553:
1545:
1541:
1536:
1531:
1527:
1523:
1519:
1515:
1511:
1507:
1503:
1496:
1488:
1484:
1479:
1474:
1470:
1466:
1462:
1458:
1454:
1447:
1445:
1443:
1441:
1439:
1423:
1419:
1413:
1405:
1399:
1395:
1394:
1386:
1378:
1374:
1368:
1364:
1363:
1355:
1339:
1335:
1331:
1325:
1323:
1306:
1302:
1298:
1292:
1276:
1272:
1266:
1250:
1246:
1242:
1236:
1234:
1217:
1213:
1209:
1203:
1201:
1199:
1197:
1195:
1193:
1191:
1174:
1171:. June 2014.
1170:
1166:
1160:
1158:
1156:
1154:
1152:
1150:
1148:
1146:
1144:
1142:
1140:
1138:
1136:
1134:
1117:
1113:
1109:
1103:
1101:
1096:
1086:
1083:
1081:
1078:
1076:
1073:
1071:
1068:
1067:
1061:
1059:
1058:
1053:
1052:Ty Pennington
1049:
1046:
1044:
1039:
1038:
1033:
1029:
1028:
1022:
1020:
1016:
1010:
1006:
1001:
992:
984:
982:
976:
974:
970:
966:
961:
958:
949:
947:
946:Down syndrome
942:
940:
935:
933:
927:
925:
915:
913:
909:
904:
902:
901:microdeletion
897:
895:
889:
887:
886:
881:
876:
874:
871:, chromosome
870:
866:
861:
860:chromosome 15
857:
853:
849:
845:
841:
840:
835:
834:
829:
821:
812:
810:
807:
802:
800:
796:
786:
784:
773:
769:
765:
762:
757:
755:
751:
747:
743:
733:
730:
728:
724:
719:
717:
713:
712:hypernasality
708:
704:
702:
688:
686:
685:Stretch marks
683:
681:
677:
674:
671:
668:
665:
662:
659:
656:
653:
650:
647:
646:
635:
633:
629:
626:
623:
620:
617:
615:
612:
609:
608:
598:
594:
591:
588:
585:
582:
579:
576:
573:
570:
567:
565:
562:
560:Short stature
559:
556:
554:
551:
549:
546:
543:
540:
537:
535:
532:
530:
527:
524:
521:
518:
515:
513:
510:
507:
506:
496:
493:
490:
487:
483:
481:
478:
476:
473:
470:
466:
462:
459:
455:
452:
449:
448:
441:
438:
434:
425:
423:
419:
415:
414:Andrea Prader
410:
408:
404:
400:
396:
395:feeding tubes
391:
389:
385:
381:
377:
373:
369:
364:
362:
358:
354:
350:
346:
342:
338:
337:chromosome 15
334:
331:) is a rare
330:
326:
318:
309:
305:
302:
299:
297:
293:
289:
285:
281:
279:
275:
271:
268:
264:
260:
256:
252:
248:
244:
240:
236:
232:
228:
223:
219:
216:
214:
210:
206:
204:
200:
191:
145:
102:
59:
58:
56:
54:Pronunciation
52:
47:
43:
38:
34:
30:
25:
19:
4190:
4116:Chromosome 6
3564:
3553:
3427:TAR syndrome
3330:Tetrasomy 9p
3232:
3221:
3210:
3199:
3188:
3164:
3153:
3142:
3131:
3116:
3101:
3063:
3033:
3021:. Retrieved
3007:
2995:. Retrieved
2991:the original
2981:
2969:. Retrieved
2955:
2946:
2937:
2925:. Retrieved
2921:the original
2917:The Scotsman
2916:
2906:
2894:. Retrieved
2884:Mary Jones.
2879:
2869:September 9,
2867:. Retrieved
2852:
2817:
2813:
2803:
2770:
2766:
2760:
2733:
2729:
2719:
2687:(5): 474–6.
2684:
2680:
2670:
2658:. Retrieved
2653:
2644:
2621:
2573:
2569:
2559:
2526:
2522:
2516:
2474:(3): e1709.
2471:
2467:
2457:
2422:
2418:
2408:
2374:(12): e235.
2371:
2367:
2357:
2324:
2320:
2314:
2281:
2277:
2271:
2258:. Retrieved
2243:
2198:
2194:
2184:
2149:
2145:
2135:
2120:
2108:. Retrieved
2094:
2061:
2057:
2050:
2025:
2021:
2015:
2006:
2002:
1996:
1987:
1983:
1977:
1947:(7): 643–4.
1944:
1940:
1930:
1918:. Retrieved
1890:
1884:
1874:
1862:. Retrieved
1853:
1826:. Retrieved
1774:
1770:
1764:
1739:
1735:
1729:
1694:
1690:
1680:
1672:the original
1619:
1615:
1583:
1579:
1561:
1552:
1509:
1505:
1495:
1460:
1456:
1425:. Retrieved
1421:
1412:
1392:
1385:
1361:
1354:
1342:. Retrieved
1333:
1309:. Retrieved
1303:. May 2015.
1300:
1291:
1279:. Retrieved
1265:
1253:. Retrieved
1244:
1220:. Retrieved
1211:
1177:. Retrieved
1168:
1120:. Retrieved
1111:
1055:
1041:
1035:
1025:
1023:
1017:
1014:
990:
987:Epidemiology
977:
967:is a common
962:
959:
955:
943:
936:
928:
921:
905:
898:
890:
883:
877:
838:
832:
825:
803:
792:
779:
770:
766:
758:
746:hypothalamus
739:
731:
720:
709:
705:
698:
680:skin picking
663:Thin top lip
614:Hypogonadism
534:Speech delay
495:Hypogonadism
439:
435:
431:
411:
392:
365:
345:weak muscles
328:
324:
323:
226:
222:weak muscles
217:
18:
3716:46,XX/46,XY
3633:tetrasomies
3579:Distal 18q-
3223:GeneReviews
3190:MedlinePlus
2820:(1): 80–3.
2523:Mamm Genome
2260:November 1,
1864:December 4,
1463:(1): 3–13.
1427:February 6,
1070:Epigenetics
1048:Sheryl Crow
1019:Katie Price
965:sleep apnea
867:, sporadic
542:Hyperphagia
456:Occasional
407:Group homes
238:Usual onset
32:Other names
4230:Categories
3711:45,X/46,XY
3611:Monosomies
3384:Trisomy 22
3362:Trisomy 18
3352:Trisomy 16
3300:including
3212:Patient UK
3155:DiseasesDB
2368:PLOS Genet
1920:January 6,
1691:Pediatrics
1506:Pediatrics
1344:August 20,
1311:August 20,
1281:August 19,
1255:August 20,
1222:August 20,
1179:August 19,
1122:August 20,
1112:Whonamedit
1091:References
828:imprinting
795:strabismus
783:adrenarche
736:Behavioral
517:Strabismus
403:Counseling
372:imprinting
368:two copies
296:Medication
259:imprinting
3629:Trisomies
3406:Deletions
3325:Trisomy 9
3320:Trisomy 8
3302:trisomies
3290:Autosomal
3201:eMedicine
3166:SNOMED CT
3068:is being
2927:March 18,
2419:Nat Genet
2321:Hum Genet
1526:0031-4005
1032:Channel 4
981:Serotonin
952:Treatment
918:Diagnosis
869:mutations
799:esotropia
776:Endocrine
678:Frequent
630:Prone to
604:Adulthood
523:Scoliosis
502:Childhood
480:Hypotonia
469:caesarean
376:inherited
307:Frequency
287:Treatment
203:Specialty
3751:Lymphoid
3743:lymphoma
3739:Leukemia
3234:Orphanet
3206:ped/1880
3171:89392001
3061:template
3040:Archived
3023:June 18,
3017:Archived
2997:June 12,
2971:June 12,
2965:Archived
2947:BBC News
2896:April 6,
2890:Archived
2863:Archived
2844:18162838
2787:12699450
2752:11932286
2660:June 22,
2636:Archived
2600:19498035
2551:12256515
2543:16075369
2508:18320030
2468:PLOS ONE
2449:18500341
2400:18166085
2349:23190709
2341:15565282
2306:20832857
2298:11180221
2254:Archived
2235:11106375
2176:11007541
2127:(OMIM):
2110:June 18,
2104:Archived
2009:: 102–3.
1961:12091883
1915:13265083
1907:11274341
1858:Archived
1828:June 16,
1822:Archived
1799:21083489
1791:11809260
1756:14723659
1487:18781185
1377:Archived
1338:Archived
1305:Archived
1275:Archived
1249:Archived
1216:Archived
1173:Archived
1116:Archived
1064:See also
971:, and a
912:SNORD116
856:SNORD115
852:SNORD116
815:Genetics
754:oxytocin
475:Lethargy
341:newborns
246:Duration
227:Children
213:Symptoms
3979:) t (1
3846:RUNX1T1
3821:Myeloid
3642:mosaics
3149:D011218
2835:6815229
2795:6941937
2711:9659098
2702:1717576
2591:2722987
2499:2248623
2476:Bibcode
2440:2705197
2391:2323313
2203:Bibcode
2167:1288549
2086:7184110
2078:7795645
2042:3397859
1969:5253679
1721:8424017
1712:6714046
1646:9391886
1637:1051120
1592:1340242
1544:8424017
1535:6714046
1478:2985966
1050:helped
969:sequela
910:snoRNA
908:C/D box
848:SNORD64
844:snoRNAs
761:ghrelin
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