502:
478:
215:
501:
223:
125:
477:
415:. Meiotic inter-strand DNA damages caused by melphalan can escape paternal repair and cause chromosomal aberrations in the zygote by maternal misrepair. Thus both pre- and post-fertilization DNA repair appear to be important in avoiding chromosome abnormalities and assuring the
396:
are highly susceptible to the accumulation of sperm DNA damage. Such sperm DNA damage can be transmitted unrepaired into the egg where it is subject to removal by the maternal repair machinery. However, errors in maternal DNA repair of sperm DNA damage can result in
343:
Most cancers, if not all, could cause chromosome abnormalities, with either the formation of hybrid genes and fusion proteins, deregulation of genes and overexpression of proteins, or loss of tumor suppressor genes (see the "Mitelman
Database" and the
108:. A mother's age is one of the many environmental factors that might lead to genetic abnormalities. The implications of chromosomal abnormalities depend on the specific problem, they may have quite different ramifications. Some examples are
322:
Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. Some anomalies, however, can happen after conception, resulting in
560:, which includes band names, symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include a minus sign (-) for chromosome deletions, and
61:
DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered.
348:,). Furthermore, certain consistent chromosomal abnormalities can turn normal cells into a leukemic cell such as the translocation of a gene, resulting in its inappropriate expression.
331:". This is why chromosome studies are often performed on parents when a child is found to have an anomaly. If the parents do not possess the abnormality it was not initially
345:
1268:
Chaganti RS, Nanjangud G, Schmidt H, Teruya-Feldstein J (October 2000). "Recurring chromosomal abnormalities in non-Hodgkin's lymphoma: biologic and clinical significance".
1578:
1027:
Xia Y, Bian Q, Xu L, Cheng S, Song L, Liu J, Wu W, Wang S, Wang X (2004). "Genotoxic effects on human spermatozoa among pesticide factory workers exposed to fenvalerate".
156:, etc.). Aneuploidy can be full, involving a whole chromosome missing or added, or partial, where only part of a chromosome is missing or added. Aneuploidy can occur with
167:
Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome. An example of trisomy in humans is
314:
are a group of disorders characterized by chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.
550:
2322:
2302:
2298:
1536:
978:
Xing C, Marchetti F, Li G, Weldon RH, Kurtovich E, Young S, Schmid TE, Zhang L, Rappaport S, Waidyanatha S, Wyrobek AJ, Eskenazi B (2010).
2105:
252:
1206:
1176:
301:: A portion of a chromosome has broken off and formed a circle or ring. This happens with or without the loss of genetic material.
1529:
760:
171:, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called trisomy 21.
1367:"Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair"
1232:
280:
17:
761:"Numerical Abnormalities: Overview of Trisomies and Monosomies - Health Encyclopedia - University of Rochester Medical Center"
736:
708:
683:
265:: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted.
2218:
2541:
2361:
1522:
1113:"Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds"
277:: A portion of one chromosome has been transferred to another chromosome. There are two main types of translocations:
251:: A portion of the chromosome has been duplicated, resulting in extra genetic material. Known human disorders include
2208:
451:
1254:
1791:
859:
Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa".
373:
894:
Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm".
447:
or circulating foetal cells would be collected and analysed in order to detect possible chromosomal abnormalities.
2190:
2133:
1723:
408:
311:
327:(where some cells have the anomaly and some do not). Chromosome anomalies can be inherited from a parent or be "
2184:
2123:
2061:
1678:
1477:
652:
2127:
2119:
2075:
1767:
1707:
1642:
1620:
1463:- "This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
535:
256:
238:
186:
Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk of
271:: A portion of one chromosome has been deleted from its normal place and inserted into another chromosome.
2318:
2306:
1686:
1573:
2551:
2520:
2065:
1763:
1759:
380:
the ability to repair DNA damages decreases substantially in the latter part of the process as haploid
286:
65:
was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one
2470:
2232:
2194:
1993:
1828:
605:
588:
515:
as used for the nomenclature of chromosome abnormalities. It shows dark and white regions as seen on
444:
274:
1682:
1508:
2515:
2248:
2240:
2226:
2212:
2170:
2091:
1803:
248:
203:
1504:
237:: A portion of the chromosome is missing or has been deleted. Known disorders in humans include
2354:
1694:
578:
431:
Depending on the information one wants to obtain, different techniques and samples are needed.
332:
2546:
2475:
2439:
2402:
1111:
Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014).
524:
262:
218:
The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3).
630:
Understanding
Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals
2384:
2049:
1974:
1913:
1719:
1378:
268:
31:
1070:
Xia Y, Cheng S, Bian Q, Xu L, Collins MD, Chang HC, Song L, Liu J, Wang S, Wang X (2005).
937:
Rubes J, Lowe X, Moore D, Perreault S, Slott V, Evenson D, Selevan SG, Wyrobek AJ (1998).
731:. Sutherland, Grant R., Shaffer, Lisa G. (4th ed.). Oxford: Oxford University Press.
8:
2449:
2389:
2222:
2035:
1669:
1168:
392:
nuclei. As reviewed by
Marchetti et al., the last few weeks of sperm development before
234:
144:, and occurs when an individual is either missing a chromosome from a pair (resulting in
2510:
2500:
2495:
1382:
495:
an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities.
191:
2326:
2314:
2310:
2274:
2269:
2204:
1818:
1598:
1448:
1423:
1399:
1366:
1150:
1052:
1004:
979:
919:
817:
462:
436:
1281:
1198:
980:"Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy"
955:
938:
2434:
2429:
2347:
2288:
1905:
1824:
1779:
1747:
1735:
1453:
1404:
1344:
1293:
1285:
1142:
1093:
1044:
1009:
960:
911:
876:
809:
801:
742:
732:
704:
679:
670:
455:
242:
206:. Increased aneuploidy is often associated with increased DNA damage in spermatozoa.
81:. Chromosome abnormalities may be detected or confirmed by comparing an individual's
1439:
1154:
1056:
923:
821:
483:
Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity:
2505:
2454:
2283:
2279:
2176:
2053:
2021:
1652:
1443:
1435:
1394:
1386:
1334:
1324:
1277:
1134:
1124:
1083:
1036:
999:
991:
950:
903:
868:
793:
583:
554:
512:
307:: Formed by the mirror image copy of a chromosome segment including the centromere.
2444:
2293:
1882:
835:
656:
377:
298:
175:
113:
90:
625:
2421:
1967:
1933:
1928:
1603:
1228:
600:
531:
157:
1464:
1329:
1312:
1040:
797:
214:
2535:
2162:
1962:
1923:
1918:
1846:
1832:
1808:
1796:
1784:
1772:
1752:
1657:
1635:
1630:
1608:
1289:
939:"Smoking cigarettes is associated with increased sperm disomy in teenage men"
805:
746:
440:
393:
365:
304:
168:
133:
109:
70:
1088:
1071:
872:
241:, which is caused by partial deletion of the short arm of chromosome 4; and
226:
The two major two-chromosome mutations: insertion (1) and translocation (2).
2397:
1957:
1864:
1860:
1740:
1728:
1712:
1700:
1690:
1593:
1514:
1457:
1408:
1348:
1297:
1146:
1097:
1048:
1013:
915:
880:
813:
595:
557:
412:
222:
964:
124:
1979:
1950:
1945:
1842:
784:
Patterson D (2009-07-01). "Molecular genetic analysis of Down syndrome".
530:
chromosome pairs, both the female (XX) and male (XY) versions of the two
230:
When the chromosome's structure is altered, this can take several forms:
199:
1267:
1229:"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer"
1138:
995:
2099:
2095:
1901:
1647:
1625:
1615:
573:
520:
369:
290:
187:
141:
58:
1390:
1129:
1112:
293:- in humans, these only occur with chromosomes 13, 14, 15, 21, and 22.
1940:
1896:
1588:
1583:
1339:
907:
544:
527:
516:
508:
420:
404:
385:
381:
324:
153:
129:
82:
1424:"A fully computational and reasonable representation for karyotypes"
96:
Sometimes chromosomal abnormalities arise in the early stages of an
2370:
2056:
2006:
2002:
1874:
1553:
1246:
461:
For a lymphoma or leukemia screening the technique used would be a
328:
178:, where the individual is born with only one sex chromosome, an X.
161:
145:
667:
2109:
1892:
1565:
649:
361:
357:
195:
149:
86:
78:
74:
1247:"Atlas of Genetics and Cytogenetics in Oncology and Haematology"
676:
A glossary of genetics and cytogenetics: Classical and molecular
491:
Prader–Willi
Syndrome i.e. deletion in the 15q11-q12 region and
1364:
416:
398:
190:
spermatozoa. In particular, risk of aneuploidy is increased by
105:
97:
69:. Chromosome anomalies usually occur when there is an error in
1310:
1110:
1072:"Genotoxic effects on spermatozoa of carbaryl-exposed workers"
346:
Atlas of
Genetics and Cytogenetics in Oncology and Haematology
283:: Segments from two different chromosomes have been exchanged.
2198:
2137:
2113:
2043:
389:
101:
85:, or full set of chromosomes, to a typical karyotype for the
487:
A tumour karyotype in a male with loss of the Y chromosome,
335:; however, it may be transmitted to subsequent generations.
2339:
2244:
2236:
2180:
2166:
2141:
2069:
2039:
2029:
66:
1199:"Chromosomes, Leukemias, Solid Tumors, Hereditary Cancers"
255:, which may be caused by duplication of the gene encoding
2025:
840:
National
Institute of Child Health and Human Development
1365:
Marchetti F, Bishop J, Gingerich J, Wyrobek AJ (2015).
936:
551:
International System for Human
Cytogenomic Nomenclature
289:: An entire chromosome has attached to another at the
977:
1421:
351:
338:
1311:Baarends WM, van der Laan R, Grootegoed JA (2001).
669:
893:
858:
726:
245:, also called the terminal 11q deletion disorder.
2533:
1360:
1358:
729:Chromosome abnormalities and genetic counseling
668:Rieger, R., Michaelis, A., Green, M.M. (1968).
1069:
1026:
722:
720:
148:) or has more than two chromosomes of a pair (
140:An abnormal number of chromosomes is known as
2355:
2284:46,XX testicular disorders of sex development
1530:
57:is a missing, extra, or irregular portion of
1544:
1355:
1304:
1104:
1063:
1020:
971:
887:
2106:Acute myeloblastic leukemia with maturation
1465:http://creativecommons.org/licenses/by/4.0/
930:
852:
717:
209:
27:Abnormal number or structure of chromosomes
2362:
2348:
1537:
1523:
1507:at the U.S. National Library of Medicine
1447:
1422:Warrender JD, Moorman AV, Lord P (2019).
1398:
1338:
1328:
1313:"DNA repair mechanisms and gametogenesis"
1128:
1087:
1003:
954:
783:
701:Atlas of genetic diagnosis and counseling
401:with chromosomal structural aberrations.
136:, showing three copies of chromosome 21.
2489:Mutation with respect to overall fitness
564:for deletions of parts of a chromosome.
553:(ISCN) is an international standard for
221:
213:
123:
119:
14:
2534:
1482:Coriell Institute for Medical Research
2343:
1518:
1478:"ISCN Symbols and Abbreviated Terms"
1209:from the original on 28 January 2015
698:
519:. Each row is vertically aligned at
174:An example of monosomy in humans is
2219:Desmoplastic small-round-cell tumor
1179:from the original on 14 August 2006
253:Charcot–Marie–Tooth disease type 1A
181:
24:
2414:Mutation with respect to structure
25:
2563:
1498:
388:remodeling into highly compacted
352:DNA damage during spermatogenesis
339:Acquired chromosome abnormalities
1792:22q11.2 distal deletion syndrome
1257:from the original on 2011-02-23.
1235:from the original on 2016-05-29.
500:
476:
312:Chromosome instability syndromes
2191:Dermatofibrosarcoma protuberans
2134:Acute megakaryoblastic leukemia
2062:Anaplastic large-cell lymphoma
1724:Chromosome 5q deletion syndrome
1470:
1415:
1261:
1239:
1221:
1191:
1161:
469:
194:, and occupational exposure to
828:
777:
753:
692:
661:
642:
632:, Genetic Alliance, 2009-07-08
618:
317:
13:
1:
1914:Klinefelter syndrome (47,XXY)
1679:1q21.1 copy number variations
1440:10.1093/bioinformatics/btz440
1282:10.1016/s0037-1963(00)90019-2
956:10.1016/S0015-0282(98)00261-1
703:. Totowa, N.J: Humana Press.
678:. New York: Springer-Verlag.
611:
2369:
2120:Acute promyelocytic leukemia
2076:Acute lymphoblastic leukemia
1768:17q12 microdeletion syndrome
1643:22q11.2 duplication syndrome
1621:16p11.2 duplication syndrome
426:
364:cell divisions of mammalian
257:peripheral myelin protein 22
7:
1687:1q21.1 duplication syndrome
1574:1q21.1 duplication syndrome
626:"Chromosomal Abnormalities"
567:
452:preimplantational diagnosis
10:
2568:
2471:Chromosomal translocations
1169:"Chromosome Abnormalities"
727:Gardner, R. J. M. (2012).
542:
287:Robertsonian translocation
29:
2542:Chromosomal abnormalities
2488:
2463:
2420:
2413:
2377:
2262:
2233:Alveolar rhabdomyosarcoma
2155:
2084:
2014:
2001:
1992:
1968:XYYYY syndrome (49,XYYYY)
1934:XXXXY syndrome (49,XXXXY)
1929:XXXYY syndrome (49,XXXYY)
1891:
1873:
1859:
1668:
1561:
1552:
1251:atlasgeneticsoncology.org
1203:atlasgeneticsoncology.org
1173:atlasgeneticsoncology.org
1041:10.1016/j.tox.2004.05.018
798:10.1007/s00439-009-0696-8
606:Obstetrical complications
589:List of genetic disorders
445:chorionic villus sampling
372:is effective at removing
259:(PMP22) on chromosome 17.
1708:Wolf–Hirschhorn syndrome
1683:1q21.1 deletion syndrome
1546:Chromosome abnormalities
1509:Medical Subject Headings
984:Environ. Health Perspect
650:Chromosome Abnormalities
281:Reciprocal translocation
239:Wolf–Hirschhorn syndrome
210:Structural abnormalities
204:perfluorinated compounds
30:Not to be confused with
2511:Nearly neutral mutation
2092:Philadelphia chromosome
1963:XYYY syndrome (48,XYYY)
1924:XXXY syndrome (48,XXXY)
1919:XXYY syndrome (48,XXYY)
1804:22q13 deletion syndrome
1579:2q31.1 microduplication
1330:10.1530/reprod/121.1.31
39:chromosomal abnormality
2521:Nonsynonymous mutation
2476:Chromosomal inversions
2378:Mechanisms of mutation
1951:Pentasomy X (49,XXXXX)
1883:Turner syndrome (45,X)
1764:Smith–Magenis syndrome
1760:Miller–Dieker syndrome
1695:1p36 deletion syndrome
1270:Seminars in Hematology
765:www.urmc.rochester.edu
579:Chromosome segregation
384:undergo major nuclear
227:
219:
137:
132:of an individual with
47:chromosomal aberration
18:Chromosomal aberration
2501:Advantageous mutation
2440:Conservative mutation
1958:XYY syndrome (47,XYY)
1946:Tetrasomy X (48,XXXX)
1829:Prader–Willi syndrome
1089:10.1093/toxsci/kfi066
873:10.1093/molehr/gat039
543:Further information:
225:
217:
127:
120:Numerical abnormality
2496:Deleterious mutation
2464:Large-scale mutation
2050:Mantle cell lymphoma
1720:Cri du chat syndrome
1505:Chromosome+disorders
536:mitochondrial genome
55:chromosomal disorder
51:chromosomal mutation
32:Chromatic aberration
2516:Synonymous mutation
2450:Frameshift mutation
2036:Follicular lymphoma
1383:2015NatSR...5E7689M
996:10.1289/ehp.0901531
523:level. It shows 22
513:bands and sub-bands
458:would be performed.
411:frequently used in
63:Chromosome mutation
43:chromosomal anomaly
2275:Uniparental disomy
2270:Fragile X syndrome
2205:Myxoid liposarcoma
2057:t(11 CCND1:14 IGH)
1941:Trisomy X (47,XXX)
1819:genomic imprinting
1599:Distal trisomy 10q
655:2006-09-25 at the
463:bone marrow biopsy
437:prenatal diagnosis
407:is a bifunctional
228:
220:
138:
2552:Genetics concepts
2529:
2528:
2484:
2483:
2435:Missense mutation
2430:Nonsense mutation
2337:
2336:
2289:Marker chromosome
2258:
2257:
2151:
2150:
1988:
1987:
1855:
1854:
1825:Angelman syndrome
1780:DiGeorge syndrome
1748:Jacobsen syndrome
1736:Williams syndrome
1434:(24): 5264–5270.
1391:10.1038/srep07689
1130:10.1111/and.12371
836:"Turner Syndrome"
738:978-0-19-974915-7
710:978-1-58829-681-8
685:978-0-387-07668-3
538:(at bottom left).
534:, as well as the
456:blastocyst biopsy
419:integrity of the
243:Jacobsen syndrome
16:(Redirected from
2559:
2506:Neutral mutation
2455:Dynamic mutation
2418:
2417:
2364:
2357:
2350:
2341:
2340:
2280:XX male syndrome
2177:Synovial sarcoma
2054:Multiple myeloma
2022:Burkitt lymphoma
2012:
2011:
1999:
1998:
1902:other karyotypes
1871:
1870:
1653:Cat-eye syndrome
1559:
1558:
1539:
1532:
1525:
1516:
1515:
1492:
1491:
1489:
1488:
1474:
1468:
1461:
1451:
1419:
1413:
1412:
1402:
1362:
1353:
1352:
1342:
1332:
1308:
1302:
1301:
1265:
1259:
1258:
1243:
1237:
1236:
1225:
1219:
1218:
1216:
1214:
1195:
1189:
1188:
1186:
1184:
1165:
1159:
1158:
1132:
1108:
1102:
1101:
1091:
1067:
1061:
1060:
1024:
1018:
1017:
1007:
975:
969:
968:
958:
934:
928:
927:
908:10.1002/mrd.1048
896:Mol. Reprod. Dev
891:
885:
884:
861:Mol. Hum. Reprod
856:
850:
849:
847:
846:
832:
826:
825:
781:
775:
774:
772:
771:
757:
751:
750:
724:
715:
714:
696:
690:
689:
673:
665:
659:
646:
640:
639:
638:
637:
622:
584:Genetic disorder
555:human chromosome
504:
480:
454:of an embryo, a
409:alkylating agent
182:Sperm aneuploidy
21:
2567:
2566:
2562:
2561:
2560:
2558:
2557:
2556:
2532:
2531:
2530:
2525:
2480:
2459:
2445:Silent mutation
2409:
2373:
2368:
2338:
2333:
2294:Ring chromosome
2254:
2147:
2080:
1984:
1900:
1887:
1851:
1664:
1563:
1548:
1543:
1501:
1496:
1495:
1486:
1484:
1476:
1475:
1471:
1462:
1420:
1416:
1363:
1356:
1309:
1305:
1266:
1262:
1245:
1244:
1240:
1227:
1226:
1222:
1212:
1210:
1197:
1196:
1192:
1182:
1180:
1167:
1166:
1162:
1109:
1105:
1068:
1064:
1025:
1021:
976:
972:
935:
931:
892:
888:
857:
853:
844:
842:
834:
833:
829:
782:
778:
769:
767:
759:
758:
754:
739:
725:
718:
711:
699:Chen H (2006).
697:
693:
686:
666:
662:
657:Wayback Machine
647:
643:
635:
633:
624:
623:
619:
614:
570:
547:
539:
532:sex chromosomes
511:with annotated
505:
496:
481:
472:
429:
378:spermatogenesis
376:. However, in
354:
341:
320:
212:
192:tobacco smoking
184:
176:Turner syndrome
158:sex chromosomes
122:
114:Turner syndrome
91:genetic testing
35:
28:
23:
22:
15:
12:
11:
5:
2565:
2555:
2554:
2549:
2544:
2527:
2526:
2524:
2523:
2518:
2513:
2508:
2503:
2498:
2492:
2490:
2486:
2485:
2482:
2481:
2479:
2478:
2473:
2467:
2465:
2461:
2460:
2458:
2457:
2452:
2447:
2442:
2437:
2432:
2426:
2424:
2422:Point mutation
2415:
2411:
2410:
2408:
2407:
2406:
2405:
2400:
2392:
2387:
2381:
2379:
2375:
2374:
2367:
2366:
2359:
2352:
2344:
2335:
2334:
2332:
2331:
2330:
2329:
2291:
2286:
2277:
2272:
2266:
2264:
2260:
2259:
2256:
2255:
2253:
2252:
2230:
2216:
2202:
2188:
2174:
2159:
2157:
2153:
2152:
2149:
2148:
2146:
2145:
2131:
2117:
2103:
2088:
2086:
2082:
2081:
2079:
2078:
2073:
2059:
2047:
2033:
2018:
2016:
2009:
1996:
1994:Translocations
1990:
1989:
1986:
1985:
1983:
1982:
1977:
1971:
1970:
1965:
1960:
1954:
1953:
1948:
1943:
1937:
1936:
1931:
1926:
1921:
1916:
1910:
1908:
1889:
1888:
1886:
1885:
1879:
1877:
1868:
1857:
1856:
1853:
1852:
1850:
1849:
1839:
1838:
1837:
1836:
1814:
1813:
1812:
1811:
1801:
1800:
1799:
1789:
1788:
1787:
1777:
1776:
1775:
1757:
1756:
1755:
1745:
1744:
1743:
1733:
1732:
1731:
1717:
1716:
1715:
1705:
1704:
1703:
1674:
1672:
1666:
1665:
1663:
1662:
1661:
1660:
1650:
1645:
1640:
1639:
1638:
1628:
1623:
1618:
1613:
1612:
1611:
1604:Patau syndrome
1601:
1596:
1591:
1586:
1581:
1576:
1570:
1568:
1556:
1550:
1549:
1542:
1541:
1534:
1527:
1519:
1513:
1512:
1500:
1499:External links
1497:
1494:
1493:
1469:
1428:Bioinformatics
1414:
1354:
1303:
1276:(4): 396–411.
1260:
1238:
1220:
1190:
1160:
1103:
1062:
1035:(1–3): 49–60.
1019:
970:
943:Fertil. Steril
929:
886:
867:(10): 634–43.
851:
827:
792:(1): 195–214.
786:Human Genetics
776:
752:
737:
716:
709:
691:
684:
660:
641:
616:
615:
613:
610:
609:
608:
603:
601:Nondisjunction
598:
593:
592:
591:
581:
576:
569:
566:
541:
540:
506:
499:
497:
482:
475:
471:
468:
467:
466:
459:
448:
428:
425:
353:
350:
340:
337:
319:
316:
309:
308:
302:
296:
295:
294:
284:
275:Translocations
272:
266:
260:
246:
211:
208:
183:
180:
121:
118:
26:
9:
6:
4:
3:
2:
2564:
2553:
2550:
2548:
2545:
2543:
2540:
2539:
2537:
2522:
2519:
2517:
2514:
2512:
2509:
2507:
2504:
2502:
2499:
2497:
2494:
2493:
2491:
2487:
2477:
2474:
2472:
2469:
2468:
2466:
2462:
2456:
2453:
2451:
2448:
2446:
2443:
2441:
2438:
2436:
2433:
2431:
2428:
2427:
2425:
2423:
2419:
2416:
2412:
2404:
2401:
2399:
2396:
2395:
2394:Substitution
2393:
2391:
2388:
2386:
2383:
2382:
2380:
2376:
2372:
2365:
2360:
2358:
2353:
2351:
2346:
2345:
2342:
2328:
2324:
2320:
2316:
2312:
2308:
2304:
2300:
2297:
2296:
2295:
2292:
2290:
2287:
2285:
2281:
2278:
2276:
2273:
2271:
2268:
2267:
2265:
2261:
2250:
2246:
2242:
2238:
2234:
2231:
2228:
2224:
2220:
2217:
2214:
2210:
2206:
2203:
2200:
2196:
2192:
2189:
2186:
2182:
2178:
2175:
2172:
2168:
2164:
2163:Ewing sarcoma
2161:
2160:
2158:
2154:
2143:
2139:
2135:
2132:
2129:
2125:
2121:
2118:
2115:
2111:
2107:
2104:
2101:
2097:
2093:
2090:
2089:
2087:
2083:
2077:
2074:
2071:
2067:
2063:
2060:
2058:
2055:
2051:
2048:
2045:
2041:
2037:
2034:
2031:
2027:
2023:
2020:
2019:
2017:
2013:
2010:
2008:
2004:
2000:
1997:
1995:
1991:
1981:
1978:
1976:
1973:
1972:
1969:
1966:
1964:
1961:
1959:
1956:
1955:
1952:
1949:
1947:
1944:
1942:
1939:
1938:
1935:
1932:
1930:
1927:
1925:
1922:
1920:
1917:
1915:
1912:
1911:
1909:
1907:
1903:
1898:
1894:
1890:
1884:
1881:
1880:
1878:
1876:
1872:
1869:
1866:
1862:
1858:
1848:
1847:Proximal 18q-
1844:
1841:
1840:
1834:
1830:
1826:
1823:
1822:
1821:
1820:
1816:
1815:
1810:
1807:
1806:
1805:
1802:
1798:
1795:
1794:
1793:
1790:
1786:
1783:
1782:
1781:
1778:
1774:
1771:
1770:
1769:
1765:
1761:
1758:
1754:
1751:
1750:
1749:
1746:
1742:
1739:
1738:
1737:
1734:
1730:
1727:
1726:
1725:
1721:
1718:
1714:
1711:
1710:
1709:
1706:
1702:
1699:
1698:
1696:
1692:
1688:
1684:
1680:
1676:
1675:
1673:
1671:
1667:
1659:
1656:
1655:
1654:
1651:
1649:
1646:
1644:
1641:
1637:
1634:
1633:
1632:
1631:Down syndrome
1629:
1627:
1624:
1622:
1619:
1617:
1614:
1610:
1607:
1606:
1605:
1602:
1600:
1597:
1595:
1592:
1590:
1587:
1585:
1582:
1580:
1577:
1575:
1572:
1571:
1569:
1567:
1562:Duplications,
1560:
1557:
1555:
1551:
1547:
1540:
1535:
1533:
1528:
1526:
1521:
1520:
1517:
1510:
1506:
1503:
1502:
1483:
1479:
1473:
1466:
1459:
1455:
1450:
1445:
1441:
1437:
1433:
1429:
1425:
1418:
1410:
1406:
1401:
1396:
1392:
1388:
1384:
1380:
1376:
1372:
1368:
1361:
1359:
1350:
1346:
1341:
1336:
1331:
1326:
1322:
1318:
1314:
1307:
1299:
1295:
1291:
1287:
1283:
1279:
1275:
1271:
1264:
1256:
1252:
1248:
1242:
1234:
1230:
1224:
1208:
1204:
1200:
1194:
1178:
1174:
1170:
1164:
1156:
1152:
1148:
1144:
1140:
1136:
1131:
1126:
1123:(9): 1012–9.
1122:
1118:
1114:
1107:
1099:
1095:
1090:
1085:
1082:(1): 615–23.
1081:
1077:
1073:
1066:
1058:
1054:
1050:
1046:
1042:
1038:
1034:
1030:
1023:
1015:
1011:
1006:
1001:
997:
993:
989:
985:
981:
974:
966:
962:
957:
952:
949:(4): 715–23.
948:
944:
940:
933:
925:
921:
917:
913:
909:
905:
902:(4): 417–21.
901:
897:
890:
882:
878:
874:
870:
866:
862:
855:
841:
837:
831:
823:
819:
815:
811:
807:
803:
799:
795:
791:
787:
780:
766:
762:
756:
748:
744:
740:
734:
730:
723:
721:
712:
706:
702:
695:
687:
681:
677:
672:
664:
658:
654:
651:
648:NHGRI. 2006.
645:
631:
627:
621:
617:
607:
604:
602:
599:
597:
594:
590:
587:
586:
585:
582:
580:
577:
575:
572:
571:
565:
563:
559:
556:
552:
546:
537:
533:
529:
526:
522:
518:
514:
510:
503:
498:
494:
490:
486:
479:
474:
473:
464:
460:
457:
453:
449:
446:
442:
441:amniocentesis
438:
434:
433:
432:
424:
422:
418:
414:
410:
406:
402:
400:
395:
394:fertilization
391:
387:
383:
379:
375:
371:
367:
366:gametogenesis
363:
359:
349:
347:
336:
334:
330:
326:
315:
313:
306:
305:Isochromosome
303:
300:
297:
292:
288:
285:
282:
279:
278:
276:
273:
270:
267:
264:
261:
258:
254:
250:
247:
244:
240:
236:
233:
232:
231:
224:
216:
207:
205:
201:
197:
193:
189:
179:
177:
172:
170:
169:Down syndrome
165:
163:
159:
155:
151:
147:
143:
135:
131:
126:
117:
115:
111:
110:Down syndrome
107:
103:
99:
94:
92:
88:
84:
80:
76:
72:
71:cell division
68:
64:
60:
56:
52:
48:
44:
40:
33:
19:
2547:Cytogenetics
2398:Transversion
1817:
1691:TAR syndrome
1594:Tetrasomy 9p
1545:
1485:. Retrieved
1481:
1472:
1431:
1427:
1417:
1374:
1370:
1320:
1317:Reproduction
1316:
1306:
1273:
1269:
1263:
1250:
1241:
1223:
1211:. Retrieved
1202:
1193:
1181:. Retrieved
1172:
1163:
1139:11365/982323
1120:
1116:
1106:
1079:
1076:Toxicol. Sci
1075:
1065:
1032:
1028:
1022:
990:(6): 833–9.
987:
983:
973:
946:
942:
932:
899:
895:
889:
864:
860:
854:
843:. Retrieved
839:
830:
789:
785:
779:
768:. Retrieved
764:
755:
728:
700:
694:
675:
663:
644:
634:, retrieved
629:
620:
596:Gene therapy
561:
558:nomenclature
548:
492:
488:
484:
470:Nomenclature
439:of a fetus,
430:
413:chemotherapy
403:
355:
342:
321:
310:
249:Duplications
229:
200:insecticides
185:
173:
166:
139:
95:
62:
54:
50:
46:
42:
38:
36:
1980:46,XX/46,XY
1897:tetrasomies
1843:Distal 18q-
1323:(1): 31–9.
374:DNA damages
356:During the
318:Inheritance
59:chromosomal
2536:Categories
2403:Transition
1975:45,X/46,XY
1875:Monosomies
1648:Trisomy 22
1626:Trisomy 18
1616:Trisomy 16
1564:including
1487:2022-10-27
1117:Andrologia
1029:Toxicology
845:2020-11-17
770:2020-11-17
671:"Mutation"
636:2023-09-27
612:References
574:Aneuploidy
525:homologous
521:centromere
382:spermatids
370:DNA repair
291:centromere
269:Insertions
263:Inversions
142:aneuploidy
134:trisomy 21
73:following
2385:Insertion
1893:Trisomies
1670:Deletions
1589:Trisomy 9
1584:Trisomy 8
1566:trisomies
1554:Autosomal
1340:1765/9599
1290:0037-1963
806:1432-1203
747:769344040
545:Karyotype
528:autosomal
517:G banding
509:karyotype
427:Detection
421:conceptus
405:Melphalan
386:chromatin
333:inherited
325:Mosaicism
235:Deletions
188:aneuploid
162:autosomes
154:tetrasomy
130:karyotype
83:karyotype
2390:Deletion
2371:Mutation
2015:Lymphoid
2007:lymphoma
2003:Leukemia
1458:31228194
1409:25567288
1377:: 7689.
1349:11226027
1298:11071361
1255:Archived
1233:Archived
1207:Archived
1177:Archived
1155:13484513
1147:25382683
1098:15615886
1057:36073841
1049:15363581
1014:20418200
924:35230655
916:11468778
881:23720770
822:10403507
814:19526251
653:Archived
568:See also
450:For the
435:For the
146:monosomy
2243:) t (1
2110:RUNX1T1
2085:Myeloid
1906:mosaics
1449:6954653
1400:4286742
1379:Bibcode
1371:Sci Rep
1005:2898861
965:9797104
399:zygotes
362:meiotic
358:mitotic
329:de novo
196:benzene
150:trisomy
87:species
79:mitosis
75:meiosis
2195:COL1A1
1867:linked
1511:(MeSH)
1456:
1446:
1407:
1397:
1347:
1296:
1288:
1153:
1145:
1096:
1055:
1047:
1012:
1002:
963:
922:
914:
879:
820:
812:
804:
745:
735:
707:
682:
507:Human
417:genome
202:, and
106:infant
98:embryo
2263:Other
2249:FOXO1
2247:; 13
2241:FOXO1
2239:; 13
2225:; 22
2221:t(11
2211:; 16
2209:DDIT3
2207:t(12
2199:PDGFB
2193:t(17
2169:; 22
2165:t(11
2156:Other
2138:RBM15
2122:t(15
2114:RUNX1
2098:; 22
2038:t(14
1213:9 May
1183:9 May
1151:S2CID
1053:S2CID
920:S2CID
818:S2CID
390:sperm
299:Rings
104:, or
102:sperm
53:, or
2245:PAX7
2237:PAX3
2235:t(2
2197:;22
2183:;18
2179:t(x
2167:FLI1
2142:MKL1
2140:;22
2136:t(1
2128:RARA
2126:,17
2112:;21
2108:t(8
2094:t(9
2070:NPM1
2064:t(2
2044:BCL2
2042:;18
2028:;14
2024:t(8
1454:PMID
1405:PMID
1345:PMID
1294:PMID
1286:ISSN
1215:2018
1185:2018
1143:PMID
1094:PMID
1045:PMID
1010:PMID
961:PMID
912:PMID
877:PMID
810:PMID
802:ISSN
743:OCLC
733:ISBN
705:ISBN
680:ISBN
549:The
360:and
112:and
89:via
67:gene
2227:EWS
2223:WT1
2213:FUS
2185:SSX
2181:SYT
2171:EWS
2124:PML
2100:BCR
2096:ABL
2068:;5
2066:ALK
2040:IGH
2030:IGH
2026:MYC
1444:PMC
1436:doi
1395:PMC
1387:doi
1335:hdl
1325:doi
1321:121
1278:doi
1135:hdl
1125:doi
1084:doi
1037:doi
1033:203
1000:PMC
992:doi
988:118
951:doi
904:doi
869:doi
794:doi
790:126
562:del
493:(C)
489:(B)
485:(A)
160:or
77:or
2538::
2327:22
2325:,
2323:21
2321:;
2319:20
2317:;
2315:18
2313:;
2311:15
2309:;
2307:14
2305:;
2301:;
1833:15
1809:22
1797:22
1785:22
1773:17
1753:11
1697:)
1658:22
1636:21
1609:13
1480:.
1467:)"
1452:.
1442:.
1432:35
1430:.
1426:.
1403:.
1393:.
1385:.
1373:.
1369:.
1357:^
1343:.
1333:.
1319:.
1315:.
1292:.
1284:.
1274:37
1272:.
1253:.
1249:.
1231:.
1205:.
1201:.
1175:.
1171:.
1149:.
1141:.
1133:.
1121:47
1119:.
1115:.
1092:.
1080:85
1078:.
1074:.
1051:.
1043:.
1031:.
1008:.
998:.
986:.
982:.
959:.
947:70
945:.
941:.
918:.
910:.
900:59
898:.
875:.
865:19
863:.
838:.
816:.
808:.
800:.
788:.
763:.
741:.
719:^
674:.
628:,
443:,
423:.
368:,
198:,
164:.
152:,
128:A
116:.
100:,
93:.
49:,
45:,
41:,
37:A
2363:e
2356:t
2349:v
2303:9
2299:6
2282:/
2251:)
2229:)
2215:)
2201:)
2187:)
2173:)
2144:)
2130:)
2116:)
2102:)
2072:)
2052:/
2046:)
2032:)
2005:/
1904:/
1899:,
1895:/
1865:Y
1863:/
1861:X
1845:/
1835:)
1831:(
1827:/
1766:/
1762:/
1741:7
1729:5
1722:/
1713:4
1701:1
1693:/
1689:/
1685:/
1681:/
1677:(
1538:e
1531:t
1524:v
1490:.
1460:.
1438::
1411:.
1389::
1381::
1375:5
1351:.
1337::
1327::
1300:.
1280::
1217:.
1187:.
1157:.
1137::
1127::
1100:.
1086::
1059:.
1039::
1016:.
994::
967:.
953::
926:.
906::
883:.
871::
848:.
824:.
796::
773:.
749:.
713:.
688:.
465:.
34:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
