491:
467:
204:
490:
212:
114:
466:
404:. 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
385:
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
332:
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
97:. 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
311:
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
549:, 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
50:
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.
337:,). 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.
320:". 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
334:
1257:
Chaganti RS, Nanjangud G, Schmidt H, Teruya-Feldstein J (October 2000). "Recurring chromosomal abnormalities in non-Hodgkin's lymphoma: biologic and clinical significance".
1567:
1016:
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".
145:, 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
156:
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
303:
are a group of disorders characterized by chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.
539:
2311:
2291:
2287:
1525:
967:
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).
2094:
241:
1195:
1165:
290:: A portion of a chromosome has broken off and formed a circle or ring. This happens with or without the loss of genetic material.
1518:
749:
160:, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called trisomy 21.
1356:"Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair"
1221:
269:
750:"Numerical Abnormalities: Overview of Trisomies and Monosomies - Health Encyclopedia - University of Rochester Medical Center"
725:
697:
672:
254:: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted.
2207:
2530:
2350:
1511:
1102:"Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds"
266:: A portion of one chromosome has been transferred to another chromosome. There are two main types of translocations:
240:: A portion of the chromosome has been duplicated, resulting in extra genetic material. Known human disorders include
2197:
440:
1243:
1780:
848:
Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa".
362:
883:
Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm".
436:
or circulating foetal cells would be collected and analysed in order to detect possible chromosomal abnormalities.
2179:
2122:
1712:
397:
300:
316:(where some cells have the anomaly and some do not). Chromosome anomalies can be inherited from a parent or be "
2173:
2112:
2050:
1667:
1466:
641:
2116:
2108:
2064:
1756:
1696:
1631:
1609:
1452:- "This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
524:
245:
227:
175:
Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk of
260:: A portion of one chromosome has been deleted from its normal place and inserted into another chromosome.
2307:
2295:
1675:
1562:
2540:
2509:
2054:
1752:
1748:
369:
the ability to repair DNA damages decreases substantially in the latter part of the process as haploid
275:
54:
was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one
2459:
2221:
2183:
1982:
1817:
594:
577:
504:
as used for the nomenclature of chromosome abnormalities. It shows dark and white regions as seen on
433:
263:
1671:
1497:
2504:
2237:
2229:
2215:
2201:
2159:
2080:
1792:
237:
192:
1493:
226:: A portion of the chromosome is missing or has been deleted. Known disorders in humans include
2343:
1683:
567:
420:
Depending on the information one wants to obtain, different techniques and samples are needed.
321:
2535:
2464:
2428:
2391:
1100:
Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014).
513:
251:
207:
The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3).
619:
Understanding
Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals
2373:
2038:
1963:
1902:
1708:
1367:
257:
20:
1059:
Xia Y, Cheng S, Bian Q, Xu L, Collins MD, Chang HC, Song L, Liu J, Wang S, Wang X (2005).
926:
Rubes J, Lowe X, Moore D, Perreault S, Slott V, Evenson D, Selevan SG, Wyrobek AJ (1998).
720:. Sutherland, Grant R., Shaffer, Lisa G. (4th ed.). Oxford: Oxford University Press.
8:
2438:
2378:
2211:
2024:
1658:
1157:
381:
nuclei. As reviewed by
Marchetti et al., the last few weeks of sperm development before
223:
133:, and occurs when an individual is either missing a chromosome from a pair (resulting in
2499:
2489:
2484:
1371:
484:
an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities.
180:
2315:
2303:
2299:
2263:
2258:
2193:
1807:
1587:
1437:
1412:
1388:
1355:
1139:
1041:
993:
968:
908:
806:
451:
425:
1270:
1187:
969:"Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy"
944:
927:
2423:
2418:
2336:
2277:
1894:
1813:
1768:
1736:
1724:
1442:
1393:
1333:
1282:
1274:
1131:
1082:
1033:
998:
949:
900:
865:
798:
790:
731:
721:
693:
668:
659:
444:
231:
195:. Increased aneuploidy is often associated with increased DNA damage in spermatozoa.
70:. Chromosome abnormalities may be detected or confirmed by comparing an individual's
1428:
1143:
1045:
912:
810:
472:
Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity:
2494:
2443:
2272:
2268:
2165:
2042:
2010:
1641:
1432:
1424:
1383:
1375:
1323:
1313:
1266:
1123:
1113:
1072:
1025:
988:
980:
939:
892:
857:
782:
572:
543:
501:
296:: Formed by the mirror image copy of a chromosome segment including the centromere.
2433:
2282:
1871:
824:
645:
366:
287:
164:
102:
79:
614:
2410:
1956:
1922:
1917:
1592:
1217:
589:
520:
146:
1453:
1318:
1301:
1029:
786:
203:
2524:
2151:
1951:
1912:
1907:
1835:
1821:
1797:
1785:
1773:
1761:
1741:
1646:
1624:
1619:
1597:
1278:
928:"Smoking cigarettes is associated with increased sperm disomy in teenage men"
794:
735:
429:
382:
354:
293:
157:
122:
98:
59:
1077:
1060:
861:
230:, which is caused by partial deletion of the short arm of chromosome 4; and
215:
The two major two-chromosome mutations: insertion (1) and translocation (2).
2386:
1946:
1853:
1849:
1729:
1717:
1701:
1689:
1679:
1582:
1503:
1446:
1397:
1337:
1286:
1135:
1086:
1037:
1002:
904:
869:
802:
584:
546:
401:
211:
953:
113:
1968:
1939:
1934:
1831:
773:
Patterson D (2009-07-01). "Molecular genetic analysis of Down syndrome".
519:
chromosome pairs, both the female (XX) and male (XY) versions of the two
219:
When the chromosome's structure is altered, this can take several forms:
188:
1256:
1218:"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer"
1127:
984:
2088:
2084:
1890:
1636:
1614:
1604:
562:
509:
358:
279:
176:
130:
47:
1379:
1118:
1101:
282:- in humans, these only occur with chromosomes 13, 14, 15, 21, and 22.
1929:
1885:
1577:
1572:
1328:
896:
533:
516:
505:
497:
409:
393:
374:
370:
313:
142:
118:
71:
1413:"A fully computational and reasonable representation for karyotypes"
85:
Sometimes chromosomal abnormalities arise in the early stages of an
2359:
2045:
1995:
1991:
1863:
1542:
1235:
450:
For a lymphoma or leukemia screening the technique used would be a
317:
167:, where the individual is born with only one sex chromosome, an X.
150:
134:
656:
2098:
1881:
1554:
638:
350:
346:
184:
138:
75:
67:
63:
1236:"Atlas of Genetics and Cytogenetics in Oncology and Haematology"
665:
A glossary of genetics and cytogenetics: Classical and molecular
480:
Prader–Willi
Syndrome i.e. deletion in the 15q11-q12 region and
1353:
405:
387:
179:
spermatozoa. In particular, risk of aneuploidy is increased by
94:
86:
58:. Chromosome anomalies usually occur when there is an error in
1299:
1099:
1061:"Genotoxic effects on spermatozoa of carbaryl-exposed workers"
335:
Atlas of
Genetics and Cytogenetics in Oncology and Haematology
272:: Segments from two different chromosomes have been exchanged.
2187:
2126:
2102:
2032:
378:
90:
74:, or full set of chromosomes, to a typical karyotype for the
476:
A tumour karyotype in a male with loss of the Y chromosome,
324:; however, it may be transmitted to subsequent generations.
2328:
2233:
2225:
2169:
2155:
2130:
2058:
2028:
2018:
55:
1188:"Chromosomes, Leukemias, Solid Tumors, Hereditary Cancers"
244:, which may be caused by duplication of the gene encoding
2014:
829:
National
Institute of Child Health and Human Development
1354:
Marchetti F, Bishop J, Gingerich J, Wyrobek AJ (2015).
925:
540:
International System for Human
Cytogenomic Nomenclature
278:: An entire chromosome has attached to another at the
966:
1410:
340:
327:
1300:Baarends WM, van der Laan R, Grootegoed JA (2001).
658:
882:
847:
715:
234:, also called the terminal 11q deletion disorder.
2522:
1349:
1347:
718:Chromosome abnormalities and genetic counseling
657:Rieger, R., Michaelis, A., Green, M.M. (1968).
1058:
1015:
711:
709:
137:) or has more than two chromosomes of a pair (
129:An abnormal number of chromosomes is known as
2344:
2273:46,XX testicular disorders of sex development
1519:
46:is a missing, extra, or irregular portion of
1533:
1344:
1293:
1093:
1052:
1009:
960:
876:
2095:Acute myeloblastic leukemia with maturation
1454:http://creativecommons.org/licenses/by/4.0/
919:
841:
706:
198:
16:Abnormal number or structure of chromosomes
2351:
2337:
1526:
1512:
1496:at the U.S. National Library of Medicine
1436:
1411:Warrender JD, Moorman AV, Lord P (2019).
1387:
1327:
1317:
1302:"DNA repair mechanisms and gametogenesis"
1117:
1076:
992:
943:
772:
690:Atlas of genetic diagnosis and counseling
390:with chromosomal structural aberrations.
125:, showing three copies of chromosome 21.
2478:Mutation with respect to overall fitness
553:for deletions of parts of a chromosome.
542:(ISCN) is an international standard for
210:
202:
112:
108:
2523:
1471:Coriell Institute for Medical Research
2332:
1507:
1467:"ISCN Symbols and Abbreviated Terms"
1198:from the original on 28 January 2015
687:
508:. Each row is vertically aligned at
163:An example of monosomy in humans is
2208:Desmoplastic small-round-cell tumor
1168:from the original on 14 August 2006
242:Charcot–Marie–Tooth disease type 1A
170:
13:
2403:Mutation with respect to structure
14:
2552:
1487:
377:remodeling into highly compacted
341:DNA damage during spermatogenesis
328:Acquired chromosome abnormalities
1781:22q11.2 distal deletion syndrome
1246:from the original on 2011-02-23.
1224:from the original on 2016-05-29.
489:
465:
301:Chromosome instability syndromes
2180:Dermatofibrosarcoma protuberans
2123:Acute megakaryoblastic leukemia
2051:Anaplastic large-cell lymphoma
1713:Chromosome 5q deletion syndrome
1459:
1404:
1250:
1228:
1210:
1180:
1150:
458:
183:, and occupational exposure to
817:
766:
742:
681:
650:
631:
621:, Genetic Alliance, 2009-07-08
607:
306:
1:
1903:Klinefelter syndrome (47,XXY)
1668:1q21.1 copy number variations
1429:10.1093/bioinformatics/btz440
1271:10.1016/s0037-1963(00)90019-2
945:10.1016/S0015-0282(98)00261-1
692:. Totowa, N.J: Humana Press.
667:. New York: Springer-Verlag.
600:
2358:
2109:Acute promyelocytic leukemia
2065:Acute lymphoblastic leukemia
1757:17q12 microdeletion syndrome
1632:22q11.2 duplication syndrome
1610:16p11.2 duplication syndrome
415:
353:cell divisions of mammalian
246:peripheral myelin protein 22
7:
1676:1q21.1 duplication syndrome
1563:1q21.1 duplication syndrome
615:"Chromosomal Abnormalities"
556:
441:preimplantational diagnosis
10:
2557:
2460:Chromosomal translocations
1158:"Chromosome Abnormalities"
716:Gardner, R. J. M. (2012).
531:
276:Robertsonian translocation
18:
2531:Chromosomal abnormalities
2477:
2452:
2409:
2402:
2366:
2251:
2222:Alveolar rhabdomyosarcoma
2144:
2073:
2003:
1990:
1981:
1957:XYYYY syndrome (49,XYYYY)
1923:XXXXY syndrome (49,XXXXY)
1918:XXXYY syndrome (49,XXXYY)
1880:
1862:
1848:
1657:
1550:
1541:
1240:atlasgeneticsoncology.org
1192:atlasgeneticsoncology.org
1162:atlasgeneticsoncology.org
1030:10.1016/j.tox.2004.05.018
787:10.1007/s00439-009-0696-8
595:Obstetrical complications
578:List of genetic disorders
434:chorionic villus sampling
361:is effective at removing
248:(PMP22) on chromosome 17.
1697:Wolf–Hirschhorn syndrome
1672:1q21.1 deletion syndrome
1535:Chromosome abnormalities
1498:Medical Subject Headings
973:Environ. Health Perspect
639:Chromosome Abnormalities
270:Reciprocal translocation
228:Wolf–Hirschhorn syndrome
199:Structural abnormalities
193:perfluorinated compounds
19:Not to be confused with
2500:Nearly neutral mutation
2081:Philadelphia chromosome
1952:XYYY syndrome (48,XYYY)
1913:XXXY syndrome (48,XXXY)
1908:XXYY syndrome (48,XXYY)
1793:22q13 deletion syndrome
1568:2q31.1 microduplication
1319:10.1530/reprod/121.1.31
28:chromosomal abnormality
2510:Nonsynonymous mutation
2465:Chromosomal inversions
2367:Mechanisms of mutation
1940:Pentasomy X (49,XXXXX)
1872:Turner syndrome (45,X)
1753:Smith–Magenis syndrome
1749:Miller–Dieker syndrome
1684:1p36 deletion syndrome
1259:Seminars in Hematology
754:www.urmc.rochester.edu
568:Chromosome segregation
373:undergo major nuclear
216:
208:
126:
121:of an individual with
36:chromosomal aberration
2490:Advantageous mutation
2429:Conservative mutation
1947:XYY syndrome (47,XYY)
1935:Tetrasomy X (48,XXXX)
1818:Prader–Willi syndrome
1078:10.1093/toxsci/kfi066
862:10.1093/molehr/gat039
532:Further information:
214:
206:
116:
109:Numerical abnormality
2485:Deleterious mutation
2453:Large-scale mutation
2039:Mantle cell lymphoma
1709:Cri du chat syndrome
1494:Chromosome+disorders
525:mitochondrial genome
44:chromosomal disorder
40:chromosomal mutation
21:Chromatic aberration
2505:Synonymous mutation
2439:Frameshift mutation
2025:Follicular lymphoma
1372:2015NatSR...5E7689M
985:10.1289/ehp.0901531
512:level. It shows 22
502:bands and sub-bands
447:would be performed.
400:frequently used in
52:Chromosome mutation
32:chromosomal anomaly
2264:Uniparental disomy
2259:Fragile X syndrome
2194:Myxoid liposarcoma
2046:t(11 CCND1:14 IGH)
1930:Trisomy X (47,XXX)
1808:genomic imprinting
1588:Distal trisomy 10q
644:2006-09-25 at the
452:bone marrow biopsy
426:prenatal diagnosis
396:is a bifunctional
217:
209:
127:
2541:Genetics concepts
2518:
2517:
2473:
2472:
2424:Missense mutation
2419:Nonsense mutation
2326:
2325:
2278:Marker chromosome
2247:
2246:
2140:
2139:
1977:
1976:
1844:
1843:
1814:Angelman syndrome
1769:DiGeorge syndrome
1737:Jacobsen syndrome
1725:Williams syndrome
1423:(24): 5264–5270.
1380:10.1038/srep07689
1119:10.1111/and.12371
825:"Turner Syndrome"
727:978-0-19-974915-7
699:978-1-58829-681-8
674:978-0-387-07668-3
527:(at bottom left).
523:, as well as the
445:blastocyst biopsy
408:integrity of the
232:Jacobsen syndrome
2548:
2495:Neutral mutation
2444:Dynamic mutation
2407:
2406:
2353:
2346:
2339:
2330:
2329:
2269:XX male syndrome
2166:Synovial sarcoma
2043:Multiple myeloma
2011:Burkitt lymphoma
2001:
2000:
1988:
1987:
1891:other karyotypes
1860:
1859:
1642:Cat-eye syndrome
1548:
1547:
1528:
1521:
1514:
1505:
1504:
1481:
1480:
1478:
1477:
1463:
1457:
1450:
1440:
1408:
1402:
1401:
1391:
1351:
1342:
1341:
1331:
1321:
1297:
1291:
1290:
1254:
1248:
1247:
1232:
1226:
1225:
1214:
1208:
1207:
1205:
1203:
1184:
1178:
1177:
1175:
1173:
1154:
1148:
1147:
1121:
1097:
1091:
1090:
1080:
1056:
1050:
1049:
1013:
1007:
1006:
996:
964:
958:
957:
947:
923:
917:
916:
897:10.1002/mrd.1048
885:Mol. Reprod. Dev
880:
874:
873:
850:Mol. Hum. Reprod
845:
839:
838:
836:
835:
821:
815:
814:
770:
764:
763:
761:
760:
746:
740:
739:
713:
704:
703:
685:
679:
678:
662:
654:
648:
635:
629:
628:
627:
626:
611:
573:Genetic disorder
544:human chromosome
493:
469:
443:of an embryo, a
398:alkylating agent
171:Sperm aneuploidy
2556:
2555:
2551:
2550:
2549:
2547:
2546:
2545:
2521:
2520:
2519:
2514:
2469:
2448:
2434:Silent mutation
2398:
2362:
2357:
2327:
2322:
2283:Ring chromosome
2243:
2136:
2069:
1973:
1889:
1876:
1840:
1653:
1552:
1537:
1532:
1490:
1485:
1484:
1475:
1473:
1465:
1464:
1460:
1451:
1409:
1405:
1352:
1345:
1298:
1294:
1255:
1251:
1234:
1233:
1229:
1216:
1215:
1211:
1201:
1199:
1186:
1185:
1181:
1171:
1169:
1156:
1155:
1151:
1098:
1094:
1057:
1053:
1014:
1010:
965:
961:
924:
920:
881:
877:
846:
842:
833:
831:
823:
822:
818:
771:
767:
758:
756:
748:
747:
743:
728:
714:
707:
700:
688:Chen H (2006).
686:
682:
675:
655:
651:
646:Wayback Machine
636:
632:
624:
622:
613:
612:
608:
603:
559:
536:
528:
521:sex chromosomes
500:with annotated
494:
485:
470:
461:
418:
367:spermatogenesis
365:. However, in
343:
330:
309:
201:
181:tobacco smoking
173:
165:Turner syndrome
147:sex chromosomes
111:
103:Turner syndrome
80:genetic testing
24:
17:
12:
11:
5:
2554:
2544:
2543:
2538:
2533:
2516:
2515:
2513:
2512:
2507:
2502:
2497:
2492:
2487:
2481:
2479:
2475:
2474:
2471:
2470:
2468:
2467:
2462:
2456:
2454:
2450:
2449:
2447:
2446:
2441:
2436:
2431:
2426:
2421:
2415:
2413:
2411:Point mutation
2404:
2400:
2399:
2397:
2396:
2395:
2394:
2389:
2381:
2376:
2370:
2368:
2364:
2363:
2356:
2355:
2348:
2341:
2333:
2324:
2323:
2321:
2320:
2319:
2318:
2280:
2275:
2266:
2261:
2255:
2253:
2249:
2248:
2245:
2244:
2242:
2241:
2219:
2205:
2191:
2177:
2163:
2148:
2146:
2142:
2141:
2138:
2137:
2135:
2134:
2120:
2106:
2092:
2077:
2075:
2071:
2070:
2068:
2067:
2062:
2048:
2036:
2022:
2007:
2005:
1998:
1985:
1983:Translocations
1979:
1978:
1975:
1974:
1972:
1971:
1966:
1960:
1959:
1954:
1949:
1943:
1942:
1937:
1932:
1926:
1925:
1920:
1915:
1910:
1905:
1899:
1897:
1878:
1877:
1875:
1874:
1868:
1866:
1857:
1846:
1845:
1842:
1841:
1839:
1838:
1828:
1827:
1826:
1825:
1803:
1802:
1801:
1800:
1790:
1789:
1788:
1778:
1777:
1776:
1766:
1765:
1764:
1746:
1745:
1744:
1734:
1733:
1732:
1722:
1721:
1720:
1706:
1705:
1704:
1694:
1693:
1692:
1663:
1661:
1655:
1654:
1652:
1651:
1650:
1649:
1639:
1634:
1629:
1628:
1627:
1617:
1612:
1607:
1602:
1601:
1600:
1593:Patau syndrome
1590:
1585:
1580:
1575:
1570:
1565:
1559:
1557:
1545:
1539:
1538:
1531:
1530:
1523:
1516:
1508:
1502:
1501:
1489:
1488:External links
1486:
1483:
1482:
1458:
1417:Bioinformatics
1403:
1343:
1292:
1265:(4): 396–411.
1249:
1227:
1209:
1179:
1149:
1092:
1051:
1024:(1–3): 49–60.
1008:
959:
932:Fertil. Steril
918:
875:
856:(10): 634–43.
840:
816:
781:(1): 195–214.
775:Human Genetics
765:
741:
726:
705:
698:
680:
673:
649:
630:
605:
604:
602:
599:
598:
597:
592:
590:Nondisjunction
587:
582:
581:
580:
570:
565:
558:
555:
530:
529:
495:
488:
486:
471:
464:
460:
457:
456:
455:
448:
437:
417:
414:
342:
339:
329:
326:
308:
305:
298:
297:
291:
285:
284:
283:
273:
264:Translocations
261:
255:
249:
235:
200:
197:
172:
169:
110:
107:
15:
9:
6:
4:
3:
2:
2553:
2542:
2539:
2537:
2534:
2532:
2529:
2528:
2526:
2511:
2508:
2506:
2503:
2501:
2498:
2496:
2493:
2491:
2488:
2486:
2483:
2482:
2480:
2476:
2466:
2463:
2461:
2458:
2457:
2455:
2451:
2445:
2442:
2440:
2437:
2435:
2432:
2430:
2427:
2425:
2422:
2420:
2417:
2416:
2414:
2412:
2408:
2405:
2401:
2393:
2390:
2388:
2385:
2384:
2383:Substitution
2382:
2380:
2377:
2375:
2372:
2371:
2369:
2365:
2361:
2354:
2349:
2347:
2342:
2340:
2335:
2334:
2331:
2317:
2313:
2309:
2305:
2301:
2297:
2293:
2289:
2286:
2285:
2284:
2281:
2279:
2276:
2274:
2270:
2267:
2265:
2262:
2260:
2257:
2256:
2254:
2250:
2239:
2235:
2231:
2227:
2223:
2220:
2217:
2213:
2209:
2206:
2203:
2199:
2195:
2192:
2189:
2185:
2181:
2178:
2175:
2171:
2167:
2164:
2161:
2157:
2153:
2152:Ewing sarcoma
2150:
2149:
2147:
2143:
2132:
2128:
2124:
2121:
2118:
2114:
2110:
2107:
2104:
2100:
2096:
2093:
2090:
2086:
2082:
2079:
2078:
2076:
2072:
2066:
2063:
2060:
2056:
2052:
2049:
2047:
2044:
2040:
2037:
2034:
2030:
2026:
2023:
2020:
2016:
2012:
2009:
2008:
2006:
2002:
1999:
1997:
1993:
1989:
1986:
1984:
1980:
1970:
1967:
1965:
1962:
1961:
1958:
1955:
1953:
1950:
1948:
1945:
1944:
1941:
1938:
1936:
1933:
1931:
1928:
1927:
1924:
1921:
1919:
1916:
1914:
1911:
1909:
1906:
1904:
1901:
1900:
1898:
1896:
1892:
1887:
1883:
1879:
1873:
1870:
1869:
1867:
1865:
1861:
1858:
1855:
1851:
1847:
1837:
1836:Proximal 18q-
1833:
1830:
1829:
1823:
1819:
1815:
1812:
1811:
1810:
1809:
1805:
1804:
1799:
1796:
1795:
1794:
1791:
1787:
1784:
1783:
1782:
1779:
1775:
1772:
1771:
1770:
1767:
1763:
1760:
1759:
1758:
1754:
1750:
1747:
1743:
1740:
1739:
1738:
1735:
1731:
1728:
1727:
1726:
1723:
1719:
1716:
1715:
1714:
1710:
1707:
1703:
1700:
1699:
1698:
1695:
1691:
1688:
1687:
1685:
1681:
1677:
1673:
1669:
1665:
1664:
1662:
1660:
1656:
1648:
1645:
1644:
1643:
1640:
1638:
1635:
1633:
1630:
1626:
1623:
1622:
1621:
1620:Down syndrome
1618:
1616:
1613:
1611:
1608:
1606:
1603:
1599:
1596:
1595:
1594:
1591:
1589:
1586:
1584:
1581:
1579:
1576:
1574:
1571:
1569:
1566:
1564:
1561:
1560:
1558:
1556:
1551:Duplications,
1549:
1546:
1544:
1540:
1536:
1529:
1524:
1522:
1517:
1515:
1510:
1509:
1506:
1499:
1495:
1492:
1491:
1472:
1468:
1462:
1455:
1448:
1444:
1439:
1434:
1430:
1426:
1422:
1418:
1414:
1407:
1399:
1395:
1390:
1385:
1381:
1377:
1373:
1369:
1365:
1361:
1357:
1350:
1348:
1339:
1335:
1330:
1325:
1320:
1315:
1311:
1307:
1303:
1296:
1288:
1284:
1280:
1276:
1272:
1268:
1264:
1260:
1253:
1245:
1241:
1237:
1231:
1223:
1219:
1213:
1197:
1193:
1189:
1183:
1167:
1163:
1159:
1153:
1145:
1141:
1137:
1133:
1129:
1125:
1120:
1115:
1112:(9): 1012–9.
1111:
1107:
1103:
1096:
1088:
1084:
1079:
1074:
1071:(1): 615–23.
1070:
1066:
1062:
1055:
1047:
1043:
1039:
1035:
1031:
1027:
1023:
1019:
1012:
1004:
1000:
995:
990:
986:
982:
978:
974:
970:
963:
955:
951:
946:
941:
938:(4): 715–23.
937:
933:
929:
922:
914:
910:
906:
902:
898:
894:
891:(4): 417–21.
890:
886:
879:
871:
867:
863:
859:
855:
851:
844:
830:
826:
820:
812:
808:
804:
800:
796:
792:
788:
784:
780:
776:
769:
755:
751:
745:
737:
733:
729:
723:
719:
712:
710:
701:
695:
691:
684:
676:
670:
666:
661:
653:
647:
643:
640:
637:NHGRI. 2006.
634:
620:
616:
610:
606:
596:
593:
591:
588:
586:
583:
579:
576:
575:
574:
571:
569:
566:
564:
561:
560:
554:
552:
548:
545:
541:
535:
526:
522:
518:
515:
511:
507:
503:
499:
492:
487:
483:
479:
475:
468:
463:
462:
453:
449:
446:
442:
438:
435:
431:
430:amniocentesis
427:
423:
422:
421:
413:
411:
407:
403:
399:
395:
391:
389:
384:
383:fertilization
380:
376:
372:
368:
364:
360:
356:
355:gametogenesis
352:
348:
338:
336:
325:
323:
319:
315:
304:
302:
295:
294:Isochromosome
292:
289:
286:
281:
277:
274:
271:
268:
267:
265:
262:
259:
256:
253:
250:
247:
243:
239:
236:
233:
229:
225:
222:
221:
220:
213:
205:
196:
194:
190:
186:
182:
178:
168:
166:
161:
159:
158:Down syndrome
154:
152:
148:
144:
140:
136:
132:
124:
120:
115:
106:
104:
100:
99:Down syndrome
96:
92:
88:
83:
81:
77:
73:
69:
65:
61:
60:cell division
57:
53:
49:
45:
41:
37:
33:
29:
22:
2536:Cytogenetics
2387:Transversion
1806:
1680:TAR syndrome
1583:Tetrasomy 9p
1534:
1474:. Retrieved
1470:
1461:
1420:
1416:
1406:
1363:
1359:
1309:
1306:Reproduction
1305:
1295:
1262:
1258:
1252:
1239:
1230:
1212:
1200:. Retrieved
1191:
1182:
1170:. Retrieved
1161:
1152:
1128:11365/982323
1109:
1105:
1095:
1068:
1065:Toxicol. Sci
1064:
1054:
1021:
1017:
1011:
979:(6): 833–9.
976:
972:
962:
935:
931:
921:
888:
884:
878:
853:
849:
843:
832:. Retrieved
828:
819:
778:
774:
768:
757:. Retrieved
753:
744:
717:
689:
683:
664:
652:
633:
623:, retrieved
618:
609:
585:Gene therapy
550:
547:nomenclature
537:
481:
477:
473:
459:Nomenclature
428:of a fetus,
419:
402:chemotherapy
392:
344:
331:
310:
299:
238:Duplications
218:
189:insecticides
174:
162:
155:
128:
84:
51:
43:
39:
35:
31:
27:
25:
1969:46,XX/46,XY
1886:tetrasomies
1832:Distal 18q-
1312:(1): 31–9.
363:DNA damages
345:During the
307:Inheritance
48:chromosomal
2525:Categories
2392:Transition
1964:45,X/46,XY
1864:Monosomies
1637:Trisomy 22
1615:Trisomy 18
1605:Trisomy 16
1553:including
1476:2022-10-27
1106:Andrologia
1018:Toxicology
834:2020-11-17
759:2020-11-17
660:"Mutation"
625:2023-09-27
601:References
563:Aneuploidy
514:homologous
510:centromere
371:spermatids
359:DNA repair
280:centromere
258:Insertions
252:Inversions
131:aneuploidy
123:trisomy 21
62:following
2374:Insertion
1882:Trisomies
1659:Deletions
1578:Trisomy 9
1573:Trisomy 8
1555:trisomies
1543:Autosomal
1329:1765/9599
1279:0037-1963
795:1432-1203
736:769344040
534:Karyotype
517:autosomal
506:G banding
498:karyotype
416:Detection
410:conceptus
394:Melphalan
375:chromatin
322:inherited
314:Mosaicism
224:Deletions
177:aneuploid
151:autosomes
143:tetrasomy
119:karyotype
72:karyotype
2379:Deletion
2360:Mutation
2004:Lymphoid
1996:lymphoma
1992:Leukemia
1447:31228194
1398:25567288
1366:: 7689.
1338:11226027
1287:11071361
1244:Archived
1222:Archived
1196:Archived
1166:Archived
1144:13484513
1136:25382683
1087:15615886
1046:36073841
1038:15363581
1003:20418200
913:35230655
905:11468778
870:23720770
811:10403507
803:19526251
642:Archived
557:See also
439:For the
424:For the
135:monosomy
2232:) t (1
2099:RUNX1T1
2074:Myeloid
1895:mosaics
1438:6954653
1389:4286742
1368:Bibcode
1360:Sci Rep
994:2898861
954:9797104
388:zygotes
351:meiotic
347:mitotic
318:de novo
185:benzene
139:trisomy
76:species
68:mitosis
64:meiosis
2184:COL1A1
1856:linked
1500:(MeSH)
1445:
1435:
1396:
1386:
1336:
1285:
1277:
1142:
1134:
1085:
1044:
1036:
1001:
991:
952:
911:
903:
868:
809:
801:
793:
734:
724:
696:
671:
496:Human
406:genome
191:, and
95:infant
87:embryo
2252:Other
2238:FOXO1
2236:; 13
2230:FOXO1
2228:; 13
2214:; 22
2210:t(11
2200:; 16
2198:DDIT3
2196:t(12
2188:PDGFB
2182:t(17
2158:; 22
2154:t(11
2145:Other
2127:RBM15
2111:t(15
2103:RUNX1
2087:; 22
2027:t(14
1202:9 May
1172:9 May
1140:S2CID
1042:S2CID
909:S2CID
807:S2CID
379:sperm
288:Rings
93:, or
91:sperm
42:, or
2234:PAX7
2226:PAX3
2224:t(2
2186:;22
2172:;18
2168:t(x
2156:FLI1
2131:MKL1
2129:;22
2125:t(1
2117:RARA
2115:,17
2101:;21
2097:t(8
2083:t(9
2059:NPM1
2053:t(2
2033:BCL2
2031:;18
2017:;14
2013:t(8
1443:PMID
1394:PMID
1334:PMID
1283:PMID
1275:ISSN
1204:2018
1174:2018
1132:PMID
1083:PMID
1034:PMID
999:PMID
950:PMID
901:PMID
866:PMID
799:PMID
791:ISSN
732:OCLC
722:ISBN
694:ISBN
669:ISBN
538:The
349:and
101:and
78:via
56:gene
2216:EWS
2212:WT1
2202:FUS
2174:SSX
2170:SYT
2160:EWS
2113:PML
2089:BCR
2085:ABL
2057:;5
2055:ALK
2029:IGH
2019:IGH
2015:MYC
1433:PMC
1425:doi
1384:PMC
1376:doi
1324:hdl
1314:doi
1310:121
1267:doi
1124:hdl
1114:doi
1073:doi
1026:doi
1022:203
989:PMC
981:doi
977:118
940:doi
893:doi
858:doi
783:doi
779:126
551:del
482:(C)
478:(B)
474:(A)
149:or
66:or
2527::
2316:22
2314:,
2312:21
2310:;
2308:20
2306:;
2304:18
2302:;
2300:15
2298:;
2296:14
2294:;
2290:;
1822:15
1798:22
1786:22
1774:22
1762:17
1742:11
1686:)
1647:22
1625:21
1598:13
1469:.
1456:)"
1441:.
1431:.
1421:35
1419:.
1415:.
1392:.
1382:.
1374:.
1362:.
1358:.
1346:^
1332:.
1322:.
1308:.
1304:.
1281:.
1273:.
1263:37
1261:.
1242:.
1238:.
1220:.
1194:.
1190:.
1164:.
1160:.
1138:.
1130:.
1122:.
1110:47
1108:.
1104:.
1081:.
1069:85
1067:.
1063:.
1040:.
1032:.
1020:.
997:.
987:.
975:.
971:.
948:.
936:70
934:.
930:.
907:.
899:.
889:59
887:.
864:.
854:19
852:.
827:.
805:.
797:.
789:.
777:.
752:.
730:.
708:^
663:.
617:,
432:,
412:.
357:,
187:,
153:.
141:,
117:A
105:.
89:,
82:.
38:,
34:,
30:,
26:A
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2288:6
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2240:)
2218:)
2204:)
2190:)
2176:)
2162:)
2133:)
2119:)
2105:)
2091:)
2061:)
2041:/
2035:)
2021:)
1994:/
1893:/
1888:,
1884:/
1854:Y
1852:/
1850:X
1834:/
1824:)
1820:(
1816:/
1755:/
1751:/
1730:7
1718:5
1711:/
1702:4
1690:1
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1678:/
1674:/
1670:/
1666:(
1527:e
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1479:.
1449:.
1427::
1400:.
1378::
1370::
1364:5
1340:.
1326::
1316::
1289:.
1269::
1206:.
1176:.
1146:.
1126::
1116::
1089:.
1075::
1048:.
1028::
1005:.
983::
956:.
942::
915:.
895::
872:.
860::
837:.
813:.
785::
762:.
738:.
702:.
677:.
454:.
23:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
