207:
290:— are still miscarried over 23% of the time. Possessing a single copy of an autosome (known as a monosomy) is nearly always incompatible with life, though very rarely some monosomies can survive past birth. Having three copies of an autosome (known as a trisomy) is far more compatible with life, however. A common example is
269:
to manifest the disease. Autosomal recessive diseases, however, require two copies of the deleterious allele for the disease to manifest. Because it is possible to possess one copy of a deleterious allele without presenting a disease phenotype, two phenotypically normal parents can have a child with
305:
during meiosis. Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies. If the duplication or deletion is large enough, it can be discovered by analyzing a karyogram of the individual. Autosomal translocations can be responsible for a number of
216:
264:
or recessive fashion. These disorders manifest in and are passed on by either sex with equal frequency. Autosomal dominant disorders are often present in both parent and child, as the child needs to inherit only one copy of the deleterious
465:
Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN (December 1994). "Complicate dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene".
92:
pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two
281:
can also result in disease conditions. Aneuploidy of autosomes is not well tolerated and usually results in miscarriage of the developing fetus. Fetuses with aneuploidy of gene-rich chromosomes—such as
183:. Karyograms and staining techniques can only detect large-scale disruptions to chromosomes—chromosomal aberrations smaller than a few million base pairs generally cannot be seen on a karyogram.
1399:
900:
171:
for easy comparison. Clinical geneticists can compare the karyogram of an individual to a reference karyogram to discover the cytogenetic basis of certain
245:
671:
Savva, George M.; Morris, Joan K.; Mutton, David E.; Alberman, Eva (June 2006). "Maternal age-specific fetal loss rates in Down syndrome pregnancies".
1432:
1389:
1030:
655:
389:
786:"The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders"
1394:
613:
525:
591:
893:
564:
260:
of deleterious alleles from parents. Autosomal genetic disorders which exhibit
Mendelian inheritance can be inherited either in an
233:
are different: There are two copies of the X-chromosome in females, but males have a single X-chromosome and a Y-chromosome.
722:
1015:
1614:
886:
379:
745:"Modeling the molecular consequences of unbalanced translocations in cancer: Lessons from acute lymphoblastic leukemia"
435:
353:
1425:
1162:
302:
137:
1216:
1000:
413:
638:
Wang, Jin-Chen C. (2005-01-01). "Autosomal
Aneuploidy". In Gersen, Steven L.; MEd, Martha B. Keagle (eds.).
1169:
1152:
1122:
1095:
348:
155:
All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in
1671:
1157:
1055:
343:
295:
287:
257:
180:
145:
125:, among other irregular combinations, are known to occur and usually cause developmental abnormalities.
31:
30:
This article is about a type of chromosome. For the ancestral discovery method using autosomal DNA, see
206:
1666:
1633:
1418:
1377:
1302:
1287:
1117:
1065:
1040:
980:
475:
283:
106:
54:
1640:
1045:
338:
244:
696:
499:
333:
261:
248:
An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene.
252:
Autosomal genetic disorders can arise due to a number of causes, some of the most common being
1608:
1107:
1019:
864:
815:
766:
688:
651:
560:
556:
491:
385:
110:
1297:
1196:
854:
846:
805:
797:
756:
680:
643:
548:
517:
483:
358:
140:
and is vital for male sex determination during development. TDF functions by activating the
1352:
1347:
583:
1645:
1189:
1010:
958:
314:. Unlike single gene disorders, diseases caused by aneuploidy are the result of improper
850:
479:
1080:
1004:
859:
834:
810:
785:
253:
176:
118:
62:
46:
1660:
1571:
1566:
1561:
1556:
1551:
1546:
1541:
1536:
1531:
1526:
1521:
1516:
1511:
1060:
549:
311:
291:
286:—never survive to term, and fetuses with aneuploidy of gene-poor chromosomes—such as
122:
114:
17:
700:
215:
1628:
1594:
1589:
1506:
1501:
1496:
1491:
1486:
1481:
1476:
1471:
1466:
1441:
1035:
909:
503:
271:
164:
160:
102:
98:
94:
85:
801:
1449:
1254:
1249:
1112:
1090:
1085:
953:
714:
647:
315:
1274:
1264:
1259:
1244:
1184:
1174:
1075:
1050:
1024:
975:
965:
913:
327:
278:
42:
1226:
970:
948:
929:
878:
743:
Strefford, Jonathan C.; An, Qian; Harrison, Christine J. (31 October 2014).
189:
172:
168:
156:
868:
819:
770:
692:
443:
152:
gene can cause humans with an ordinary Y chromosome to develop as females.
495:
1581:
1212:
761:
744:
89:
58:
1382:
1236:
1147:
1142:
614:"Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders"
50:
405:
1292:
1179:
943:
939:
934:
487:
307:
266:
684:
547:
Nussbaum RL, McInnes RR, Willard HF, Hamosh A, Thompson MW (2007).
1357:
1342:
1337:
1332:
1327:
1322:
1317:
1312:
1307:
1282:
1220:
243:
129:
81:
149:
141:
1414:
1410:
882:
133:
66:
555:(7th ed.). Philadelphia, PA: Saunders/Elsevier. p.
214:
205:
132:
even though they are not sex chromosomes. For example, the
163:
and then staining them with a type of dye (most commonly,
136:
gene on the Y chromosome encodes the transcription factor
270:
the disease if both parents are carriers (also known as
1400:
International System for Human
Cytogenetic Nomenclature
524:. Encyclopedia.com articles about Chromosome mapping.
88:
that usually contains 22 pairs of autosomes and one
32:
Genealogical DNA test § Geographic origin tests
1621:
1607:
1580:
1457:
1448:
1370:
1273:
1235:
1205:
1133:
989:
920:
229:(chromosomes 1–22) in both females and males. The
65:) pairs, which may have different structures. The
518:"Chromosome mapping Facts, information, pictures"
301:Partial aneuploidy can also occur as a result of
294:, which is caused by possessing three copies of
1426:
894:
179:would show that they possess three copies of
175:. For example, the karyogram of someone with
167:). These chromosomes are typically viewed as
128:Autosomes still contain sexual determination
8:
835:"Dosage Compensation of the Sex Chromosomes"
551:Thompson & Thompson Genetics in Medicine
833:Disteche, Christine M. (15 December 2012).
1454:
1433:
1419:
1411:
1232:
901:
887:
879:
27:Any chromosome other than a sex chromosome
858:
809:
760:
185:
640:The Principles of Clinical Cytogenetics
370:
49:. The members of an autosome pair in a
69:in autosomes is collectively known as
1390:List of organisms by chromosome count
528:from the original on 10 December 2015
7:
633:
631:
578:
576:
851:10.1146/annurev-genet-110711-155454
416:from the original on 21 August 2017
381:An Introduction to genetic analysis
642:. Humana Press. pp. 133–164.
318:, not nonfunctional gene product.
25:
378:Griffiths, Anthony J. F. (1999).
715:"Translocation - Glossary Entry"
330:(abnormal number of chromosomes)
1011:Macrochromosome/Microchromosome
725:from the original on 2015-12-09
594:from the original on 2015-10-13
101:in males. Unusual combinations
1:
225:There are two copies of each
406:"Autosomal DNA - ISOGG Wiki"
199:
196:
97:in females or one X and one
802:10.1093/genetics/160.4.1745
354:XY sex-determination system
240:Autosomal genetic disorders
1688:
1051:Dinoflagellate chromosomes
384:. New York: W.H. Freeman.
298:instead of the usual two.
256:in parental germ cells or
29:
1395:List of sequenced genomes
1163:Chromosomal translocation
1036:A chromosome/B chromosome
1027:(or accessory chromosome)
839:Annual Review of Genetics
648:10.1385/1-59259-833-1:133
303:unbalanced translocations
224:
188:
1217:Telomere-binding protein
1031:Supernumerary chromosome
436:"Autosome Definition(s)"
1615:Human mitochondrial DNA
784:Klar, Amar J S (2002).
719:Genetics Home Reference
588:Encyclopædia Britannica
584:"human genetic disease"
440:Genetics Home Reference
306:diseases, ranging from
1153:Structural alterations
349:Pseudoautosomal region
249:
219:
210:
148:, so mutations of the
1170:Numerical alterations
1158:Chromosomal inversion
1056:Homologous chromosome
612:Chial, Heidi (2008).
344:Homologous chromosome
274:) for the condition.
258:Mendelian inheritance
247:
218:
209:
192:of human chromosomes
18:Autosomal chromosomes
1634:Human Genome Project
1609:Mitochondrial genome
1378:Extrachromosomal DNA
1066:Satellite chromosome
1041:Lampbrush chromosome
981:Nuclear organization
762:10.4161/cc.8.14.9103
1641:List of human genes
1071:Centromere position
1046:Polytene chromosome
1016:Circular chromosome
480:1994Natur.372..525F
339:Autosomal recessive
53:cell have the same
673:Prenatal Diagnosis
334:Autosomal dominant
262:autosomal dominant
250:
220:
211:
57:, unlike those in
1654:
1653:
1646:Human archaeology
1603:
1602:
1408:
1407:
1366:
1365:
1103:Centromere number
1020:Linear chromosome
755:(14): 2175–2184.
657:978-1-58829-300-8
446:on 2 January 2016
391:978-0-7167-3771-1
237:
236:
16:(Redirected from
1679:
1455:
1435:
1428:
1421:
1412:
1233:
1197:Polyploidization
1025:Extra chromosome
940:Genetic material
903:
896:
889:
880:
873:
872:
862:
830:
824:
823:
813:
796:(4): 1745–1747.
781:
775:
774:
764:
740:
734:
733:
731:
730:
711:
705:
704:
668:
662:
661:
635:
626:
625:
618:Nature Education
609:
603:
602:
600:
599:
580:
571:
570:
554:
544:
538:
537:
535:
533:
522:encyclopedia.com
514:
508:
507:
488:10.1038/372525a0
474:(6506): 525–30.
462:
456:
455:
453:
451:
442:. Archived from
432:
426:
425:
423:
421:
402:
396:
395:
375:
359:Genetic disorder
186:
86:a diploid genome
21:
1687:
1686:
1682:
1681:
1680:
1678:
1677:
1676:
1657:
1656:
1655:
1650:
1617:
1599:
1576:
1444:
1439:
1409:
1404:
1362:
1269:
1231:
1201:
1190:Paleopolyploidy
1135:
1129:
985:
959:Heterochromatin
922:
916:
907:
877:
876:
832:
831:
827:
783:
782:
778:
742:
741:
737:
728:
726:
713:
712:
708:
685:10.1002/pd.1443
670:
669:
665:
658:
637:
636:
629:
611:
610:
606:
597:
595:
582:
581:
574:
567:
546:
545:
541:
531:
529:
516:
515:
511:
464:
463:
459:
449:
447:
434:
433:
429:
419:
417:
404:
403:
399:
392:
377:
376:
372:
367:
324:
242:
231:sex chromosomes
35:
28:
23:
22:
15:
12:
11:
5:
1685:
1683:
1675:
1674:
1669:
1659:
1658:
1652:
1651:
1649:
1648:
1643:
1638:
1637:
1636:
1625:
1623:
1622:Related topics
1619:
1618:
1613:
1611:
1605:
1604:
1601:
1600:
1598:
1597:
1592:
1586:
1584:
1582:Sex chromosome
1578:
1577:
1575:
1574:
1569:
1564:
1559:
1554:
1549:
1544:
1539:
1534:
1529:
1524:
1519:
1514:
1509:
1504:
1499:
1494:
1489:
1484:
1479:
1474:
1469:
1463:
1461:
1452:
1450:Nuclear genome
1446:
1445:
1440:
1438:
1437:
1430:
1423:
1415:
1406:
1405:
1403:
1402:
1397:
1392:
1387:
1386:
1385:
1374:
1372:
1368:
1367:
1364:
1363:
1361:
1360:
1355:
1350:
1345:
1340:
1335:
1330:
1325:
1320:
1315:
1310:
1305:
1300:
1295:
1290:
1285:
1279:
1277:
1271:
1270:
1268:
1267:
1262:
1257:
1252:
1247:
1241:
1239:
1230:
1229:
1224:
1209:
1207:
1203:
1202:
1200:
1199:
1194:
1193:
1192:
1187:
1182:
1177:
1167:
1166:
1165:
1160:
1150:
1145:
1139:
1137:
1131:
1130:
1128:
1127:
1126:
1125:
1120:
1115:
1110:
1100:
1099:
1098:
1093:
1088:
1083:
1081:Submetacentric
1078:
1068:
1063:
1058:
1053:
1048:
1043:
1038:
1033:
1028:
1022:
1013:
1008:
1007:or heterosome)
1001:Sex chromosome
993:
991:
987:
986:
984:
983:
978:
973:
968:
963:
962:
961:
956:
946:
937:
932:
926:
924:
918:
917:
908:
906:
905:
898:
891:
883:
875:
874:
845:(1): 537–560.
825:
776:
735:
721:. 2015-11-02.
706:
679:(6): 499–504.
663:
656:
627:
604:
572:
565:
539:
509:
457:
427:
397:
390:
369:
368:
366:
363:
362:
361:
356:
351:
346:
341:
336:
331:
323:
320:
254:nondisjunction
241:
238:
235:
234:
222:
221:
212:
202:
201:
198:
194:
193:
177:Patau Syndrome
63:sex chromosome
47:sex chromosome
45:that is not a
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
1684:
1673:
1670:
1668:
1665:
1664:
1662:
1647:
1644:
1642:
1639:
1635:
1632:
1631:
1630:
1627:
1626:
1624:
1620:
1616:
1612:
1610:
1606:
1596:
1593:
1591:
1588:
1587:
1585:
1583:
1579:
1573:
1570:
1568:
1565:
1563:
1560:
1558:
1555:
1553:
1550:
1548:
1545:
1543:
1540:
1538:
1535:
1533:
1530:
1528:
1525:
1523:
1520:
1518:
1515:
1513:
1510:
1508:
1505:
1503:
1500:
1498:
1495:
1493:
1490:
1488:
1485:
1483:
1480:
1478:
1475:
1473:
1470:
1468:
1465:
1464:
1462:
1460:
1456:
1453:
1451:
1447:
1443:
1436:
1431:
1429:
1424:
1422:
1417:
1416:
1413:
1401:
1398:
1396:
1393:
1391:
1388:
1384:
1381:
1380:
1379:
1376:
1375:
1373:
1369:
1359:
1356:
1354:
1351:
1349:
1346:
1344:
1341:
1339:
1336:
1334:
1331:
1329:
1326:
1324:
1321:
1319:
1316:
1314:
1311:
1309:
1306:
1304:
1301:
1299:
1296:
1294:
1291:
1289:
1286:
1284:
1281:
1280:
1278:
1276:
1272:
1266:
1263:
1261:
1258:
1256:
1253:
1251:
1248:
1246:
1243:
1242:
1240:
1238:
1234:
1228:
1225:
1222:
1218:
1214:
1211:
1210:
1208:
1204:
1198:
1195:
1191:
1188:
1186:
1183:
1181:
1178:
1176:
1173:
1172:
1171:
1168:
1164:
1161:
1159:
1156:
1155:
1154:
1151:
1149:
1146:
1144:
1141:
1140:
1138:
1136:and evolution
1132:
1124:
1121:
1119:
1116:
1114:
1111:
1109:
1106:
1105:
1104:
1101:
1097:
1094:
1092:
1089:
1087:
1084:
1082:
1079:
1077:
1074:
1073:
1072:
1069:
1067:
1064:
1062:
1061:Isochromosome
1059:
1057:
1054:
1052:
1049:
1047:
1044:
1042:
1039:
1037:
1034:
1032:
1029:
1026:
1023:
1021:
1017:
1014:
1012:
1009:
1006:
1002:
998:
995:
994:
992:
988:
982:
979:
977:
974:
972:
969:
967:
964:
960:
957:
955:
952:
951:
950:
947:
945:
941:
938:
936:
933:
931:
928:
927:
925:
919:
915:
911:
904:
899:
897:
892:
890:
885:
884:
881:
870:
866:
861:
856:
852:
848:
844:
840:
836:
829:
826:
821:
817:
812:
807:
803:
799:
795:
791:
787:
780:
777:
772:
768:
763:
758:
754:
750:
746:
739:
736:
724:
720:
716:
710:
707:
702:
698:
694:
690:
686:
682:
678:
674:
667:
664:
659:
653:
649:
645:
641:
634:
632:
628:
623:
619:
615:
608:
605:
593:
589:
585:
579:
577:
573:
568:
566:9781416030805
562:
558:
553:
552:
543:
540:
527:
523:
519:
513:
510:
505:
501:
497:
493:
489:
485:
481:
477:
473:
469:
461:
458:
445:
441:
437:
431:
428:
415:
411:
410:www.isogg.org
407:
401:
398:
393:
387:
383:
382:
374:
371:
364:
360:
357:
355:
352:
350:
347:
345:
342:
340:
337:
335:
332:
329:
326:
325:
321:
319:
317:
313:
312:schizophrenia
309:
304:
299:
297:
296:chromosome 21
293:
292:Down syndrome
289:
288:chromosome 21
285:
280:
275:
273:
272:heterozygotes
268:
263:
259:
255:
246:
239:
232:
228:
223:
217:
213:
208:
204:
203:
195:
191:
187:
184:
182:
181:chromosome 13
178:
174:
170:
166:
162:
158:
153:
151:
147:
146:chromosome 17
143:
139:
135:
131:
126:
124:
120:
116:
112:
108:
104:
100:
96:
95:X chromosomes
91:
87:
83:
80:For example,
78:
76:
72:
68:
64:
60:
56:
52:
48:
44:
40:
33:
19:
1672:Cytogenetics
1629:Human genome
1458:
1442:Human genome
1102:
1070:
996:
910:Cytogenetics
842:
838:
828:
793:
789:
779:
752:
748:
738:
727:. Retrieved
718:
709:
676:
672:
666:
639:
621:
617:
607:
596:. Retrieved
587:
550:
542:
530:. Retrieved
521:
512:
471:
467:
460:
448:. Retrieved
444:the original
439:
430:
418:. Retrieved
409:
400:
380:
373:
300:
284:chromosome 1
276:
251:
230:
226:
197:Female (XX)
161:prometaphase
154:
127:
99:Y chromosome
79:
74:
70:
38:
36:
1667:Chromosomes
1123:Polycentric
1113:Monocentric
1096:Holocentric
1091:Acrocentric
1086:Telocentric
1076:Metacentric
954:Euchromatin
914:chromosomes
316:gene dosage
1661:Categories
1275:Centromere
1206:Structures
1185:Polyploidy
1175:Aneuploidy
976:Nucleosome
966:Chromosome
749:Cell Cycle
729:2015-11-08
598:2015-10-16
532:4 December
365:References
328:Aneuploidy
279:aneuploidy
277:Autosomal
200:Male (XY)
173:phenotypes
169:karyograms
55:morphology
43:chromosome
1227:Protamine
1134:Processes
1118:Dicentric
971:Chromatid
949:Chromatin
930:Karyotype
190:Karyotype
157:metaphase
59:allosomal
1459:Autosome
1371:See also
1213:Telomere
1180:Euploidy
1108:Acentric
1005:allosome
997:Autosome
923:concepts
869:22974302
820:11973326
790:Genetics
771:19556891
723:Archived
701:34154717
693:16634111
624:(1): 63.
592:Archived
526:Archived
450:28 April
420:28 April
414:Archived
322:See also
227:autosome
144:gene on
90:allosome
39:autosome
1383:Plasmid
1237:Histone
1148:Meiosis
1143:Mitosis
860:3767307
811:1462039
504:1472426
496:7990924
476:Bibcode
51:diploid
41:is any
944:Genome
935:Ploidy
867:
857:
818:
808:
769:
699:
691:
654:
563:
502:
494:
468:Nature
388:
308:cancer
267:allele
165:Giemsa
82:humans
1221:TINF2
990:Types
921:Basic
697:S2CID
500:S2CID
130:genes
119:XXXXX
84:have
75:auDNA
71:atDNA
1003:(or
865:PMID
816:PMID
767:PMID
689:PMID
652:ISBN
561:ISBN
534:2015
492:PMID
452:2018
422:2018
386:ISBN
150:SOX9
142:SOX9
123:XXYY
115:XXXX
1255:H2B
1250:H2A
855:PMC
847:doi
806:PMC
798:doi
794:160
757:doi
681:doi
644:doi
484:doi
472:372
310:to
159:or
138:TDF
134:SRY
121:or
111:XXX
107:XXY
103:XYY
73:or
67:DNA
37:An
1663::
1572:22
1567:21
1562:20
1557:19
1552:18
1547:17
1542:16
1537:15
1532:14
1527:13
1522:12
1517:11
1512:10
1298:C2
1293:C1
1265:H4
1260:H3
1245:H1
1215::
912::
863:.
853:.
843:46
841:.
837:.
814:.
804:.
792:.
788:.
765:.
751:.
747:.
717:.
695:.
687:.
677:26
675:.
650:.
630:^
620:.
616:.
590:.
586:.
575:^
559:.
557:69
520:.
498:.
490:.
482:.
470:.
438:.
412:.
408:.
117:,
113:,
109:,
105:,
77:.
1595:Y
1590:X
1507:9
1502:8
1497:7
1492:6
1487:5
1482:4
1477:3
1472:2
1467:1
1434:e
1427:t
1420:v
1358:T
1353:Q
1348:P
1343:O
1338:N
1333:M
1328:K
1323:J
1318:I
1313:H
1308:F
1303:E
1288:B
1283:A
1223:)
1219:(
1018:/
999:/
942:/
902:e
895:t
888:v
871:.
849::
822:.
800::
773:.
759::
753:8
732:.
703:.
683::
660:.
646::
622:1
601:.
569:.
536:.
506:.
486::
478::
454:.
424:.
394:.
61:(
34:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.