196:
279:— 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
205:
258:
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
294:
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
253:
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
454:
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".
81:
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
270:
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
234:
172:. 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.
1388:
160:
for easy comparison. Clinical geneticists can compare the karyogram of an individual to a reference karyogram to discover the cytogenetic basis of certain
660:
Savva, George M.; Morris, Joan K.; Mutton, David E.; Alberman, Eva (June 2006). "Maternal age-specific fetal loss rates in Down syndrome pregnancies".
889:
775:"The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders"
602:
514:
580:
1286:
249:
of deleterious alleles from parents. Autosomal genetic disorders which exhibit
Mendelian inheritance can be inherited either in an
1341:
1336:
1421:
1378:
1019:
644:
378:
222:
are different: There are two copies of the X-chromosome in females, but males have a single X-chromosome and a Y-chromosome.
1383:
711:
1141:
368:
734:"Modeling the molecular consequences of unbalanced translocations in cancer: Lessons from acute lymphoblastic leukemia"
424:
882:
553:
20:
1158:
1004:
402:
627:
Wang, Jin-Chen C. (2005-01-01). "Autosomal
Aneuploidy". In Gersen, Steven L.; MEd, Martha B. Keagle (eds.).
1603:
875:
144:
All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in
342:
114:, among other irregular combinations, are known to occur and usually cause developmental abnormalities.
19:
This article is about a type of chromosome. For the ancestral discovery method using autosomal DNA, see
1414:
1151:
291:
126:
1634:
1205:
989:
237:
An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene.
1111:
1084:
337:
241:
Autosomal genetic disorders can arise due to a number of causes, some of the most common being
545:
1660:
1146:
1044:
332:
284:
276:
246:
169:
134:
537:
506:
129:
and is vital for male sex determination during development. TDF functions by activating the
1655:
1622:
1407:
1366:
1291:
1276:
1106:
1054:
1029:
969:
572:
464:
272:
95:
43:
8:
1629:
1034:
327:
303:. Unlike single gene disorders, diseases caused by aneuploidy are the result of improper
839:
468:
848:
823:
799:
774:
685:
488:
322:
250:
1597:
1096:
1008:
853:
804:
755:
677:
640:
549:
538:
480:
374:
275:—never survive to term, and fetuses with aneuploidy of gene-poor chromosomes—such as
195:
99:
689:
1185:
1064:
843:
835:
794:
786:
745:
669:
632:
492:
472:
347:
790:
233:
1178:
999:
947:
703:
636:
1069:
993:
242:
165:
107:
51:
35:
1649:
1560:
1555:
1550:
1545:
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1535:
1530:
1525:
1520:
1515:
1510:
1505:
1500:
1049:
300:
280:
111:
103:
867:
732:
Strefford, Jonathan C.; An, Qian; Harrison, Christine J. (31 October 2014).
1617:
1583:
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1455:
1430:
1024:
898:
857:
808:
759:
681:
432:
260:
153:
149:
141:
gene can cause humans with an ordinary Y chromosome to develop as females.
91:
87:
83:
74:
484:
1438:
1243:
1238:
1101:
1079:
1074:
942:
750:
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304:
1263:
1253:
1248:
1233:
1173:
1163:
1039:
1013:
964:
954:
902:
603:"Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders"
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267:
204:
31:
394:
1215:
959:
937:
918:
476:
178:
161:
157:
145:
673:
1570:
1201:
536:
Nussbaum RL, McInnes RR, Willard HF, Hamosh A, Thompson MW (2007).
78:
47:
453:
1371:
1225:
1136:
1131:
39:
1399:
1281:
1168:
932:
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255:
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1331:
1326:
1321:
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1306:
1301:
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1271:
1209:
544:(7th ed.). Philadelphia, PA: Saunders/Elsevier. p.
118:
70:
535:
138:
130:
121:
even though they are not sex chromosomes. For example, the
152:
and then staining them with a type of dye (most commonly,
125:
gene on the Y chromosome encodes the transcription factor
659:
122:
55:
259:
the disease if both parents are carriers (also known as
1389:
International System for Human
Cytogenetic Nomenclature
513:. Encyclopedia.com articles about Chromosome mapping.
77:
that usually contains 22 pairs of autosomes and one
21:
Genealogical DNA test § Geographic origin tests
731:
218:(chromosomes 1–22) in both females and males. The
54:) pairs, which may have different structures. The
507:"Chromosome mapping Facts, information, pictures"
290:Partial aneuploidy can also occur as a result of
1647:
283:, which is caused by possessing three copies of
228:
1415:
897:
883:
168:would show that they possess three copies of
164:. For example, the karyogram of someone with
156:). These chromosomes are typically viewed as
117:Autosomes still contain sexual determination
824:"Dosage Compensation of the Sex Chromosomes"
815:
766:
725:
653:
540:Thompson & Thompson Genetics in Medicine
822:Disteche, Christine M. (15 December 2012).
1422:
1408:
890:
876:
447:
16:Any chromosome other than a sex chromosome
847:
798:
749:
366:
821:
232:
629:The Principles of Clinical Cytogenetics
38:. The members of an autosome pair in a
1648:
58:in autosomes is collectively known as
1403:
1379:List of organisms by chromosome count
871:
600:
517:from the original on 10 December 2015
772:
626:
622:
620:
567:
565:
840:10.1146/annurev-genet-110711-155454
405:from the original on 21 August 2017
370:An Introduction to genetic analysis
13:
631:. Humana Press. pp. 133–164.
307:, not nonfunctional gene product.
203:
194:
14:
1672:
617:
562:
367:Griffiths, Anthony J. F. (1999).
1429:
704:"Translocation - Glossary Entry"
319:(abnormal number of chromosomes)
1000:Macrochromosome/Microchromosome
714:from the original on 2015-12-09
696:
583:from the original on 2015-10-13
90:in males. Unusual combinations
594:
529:
499:
417:
387:
360:
1:
353:
214:There are two copies of each
395:"Autosomal DNA - ISOGG Wiki"
188:
185:
86:in females or one X and one
7:
791:10.1093/genetics/160.4.1745
343:XY sex-determination system
310:
229:Autosomal genetic disorders
10:
1677:
1040:Dinoflagellate chromosomes
373:. New York: W.H. Freeman.
287:instead of the usual two.
245:in parental germ cells or
18:
1610:
1596:
1569:
1446:
1437:
1384:List of sequenced genomes
1359:
1262:
1224:
1194:
1152:Chromosomal translocation
1122:
1025:A chromosome/B chromosome
1016:(or accessory chromosome)
978:
909:
828:Annual Review of Genetics
637:10.1385/1-59259-833-1:133
292:unbalanced translocations
213:
177:
1206:Telomere-binding protein
1020:Supernumerary chromosome
425:"Autosome Definition(s)"
1604:Human mitochondrial DNA
773:Klar, Amar J S (2002).
708:Genetics Home Reference
577:Encyclopædia Britannica
573:"human genetic disease"
429:Genetics Home Reference
295:diseases, ranging from
1142:Structural alterations
338:Pseudoautosomal region
238:
208:
199:
137:, so mutations of the
1159:Numerical alterations
1147:Chromosomal inversion
1045:Homologous chromosome
601:Chial, Heidi (2008).
333:Homologous chromosome
263:) for the condition.
247:Mendelian inheritance
236:
207:
198:
181:of human chromosomes
1623:Human Genome Project
1598:Mitochondrial genome
1367:Extrachromosomal DNA
1055:Satellite chromosome
1030:Lampbrush chromosome
970:Nuclear organization
751:10.4161/cc.8.14.9103
1630:List of human genes
1060:Centromere position
1035:Polytene chromosome
1005:Circular chromosome
469:1994Natur.372..525F
328:Autosomal recessive
42:cell have the same
662:Prenatal Diagnosis
323:Autosomal dominant
251:autosomal dominant
239:
209:
200:
46:, unlike those in
1643:
1642:
1635:Human archaeology
1592:
1591:
1397:
1396:
1355:
1354:
1092:Centromere number
1009:Linear chromosome
744:(14): 2175–2184.
646:978-1-58829-300-8
435:on 2 January 2016
380:978-0-7167-3771-1
226:
225:
1668:
1444:
1443:
1424:
1417:
1410:
1401:
1400:
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1221:
1186:Polyploidization
1014:Extra chromosome
929:Genetic material
892:
885:
878:
869:
868:
862:
861:
851:
819:
813:
812:
802:
785:(4): 1745–1747.
770:
764:
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753:
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723:
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693:
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651:
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607:Nature Education
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524:
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511:encyclopedia.com
503:
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477:10.1038/372525a0
463:(6506): 525–30.
451:
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431:. Archived from
421:
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412:
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391:
385:
384:
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348:Genetic disorder
175:
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75:a diploid genome
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1606:
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1393:
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1220:
1190:
1179:Paleopolyploidy
1124:
1118:
974:
948:Heterochromatin
911:
905:
896:
866:
865:
820:
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771:
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730:
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715:
702:
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674:10.1002/pd.1443
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220:sex chromosomes
24:
17:
12:
11:
5:
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1611:Related topics
1608:
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1600:
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1571:Sex chromosome
1567:
1566:
1564:
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1553:
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1523:
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1439:Nuclear genome
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1412:
1404:
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1070:Submetacentric
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1042:
1037:
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1002:
997:
996:or heterosome)
990:Sex chromosome
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872:
864:
863:
834:(1): 537–560.
814:
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724:
710:. 2015-11-02.
695:
668:(6): 499–504.
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243:nondisjunction
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166:Patau Syndrome
52:sex chromosome
36:sex chromosome
34:that is not a
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2:
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1125:and evolution
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1050:Isochromosome
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555:9781416030805
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399:www.isogg.org
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318:
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308:
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301:schizophrenia
298:
293:
288:
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285:chromosome 21
282:
281:Down syndrome
278:
277:chromosome 21
274:
269:
264:
262:
261:heterozygotes
257:
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235:
221:
217:
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170:chromosome 13
167:
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155:
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147:
142:
140:
136:
135:chromosome 17
132:
128:
124:
120:
115:
113:
109:
105:
101:
97:
93:
89:
85:
84:X chromosomes
80:
76:
72:
69:For example,
67:
65:
61:
57:
53:
49:
45:
41:
37:
33:
29:
22:
1661:Cytogenetics
1618:Human genome
1447:
1431:Human genome
1091:
1059:
985:
899:Cytogenetics
831:
827:
817:
782:
778:
768:
741:
737:
727:
716:. Retrieved
707:
698:
665:
661:
655:
628:
610:
606:
596:
585:. Retrieved
576:
539:
531:
519:. Retrieved
510:
501:
460:
456:
449:
437:. Retrieved
433:the original
428:
419:
407:. Retrieved
398:
389:
369:
362:
289:
273:chromosome 1
265:
240:
219:
215:
186:Female (XX)
150:prometaphase
143:
116:
88:Y chromosome
68:
63:
59:
27:
25:
1656:Chromosomes
1112:Polycentric
1102:Monocentric
1085:Holocentric
1080:Acrocentric
1075:Telocentric
1065:Metacentric
943:Euchromatin
903:chromosomes
305:gene dosage
1650:Categories
1264:Centromere
1195:Structures
1174:Polyploidy
1164:Aneuploidy
965:Nucleosome
955:Chromosome
738:Cell Cycle
718:2015-11-08
587:2015-10-16
521:4 December
354:References
317:Aneuploidy
268:aneuploidy
266:Autosomal
189:Male (XY)
162:phenotypes
158:karyograms
44:morphology
32:chromosome
1216:Protamine
1123:Processes
1107:Dicentric
960:Chromatid
938:Chromatin
919:Karyotype
179:Karyotype
146:metaphase
48:allosomal
1448:Autosome
1360:See also
1202:Telomere
1169:Euploidy
1097:Acentric
994:allosome
986:Autosome
912:concepts
858:22974302
809:11973326
779:Genetics
760:19556891
712:Archived
690:34154717
682:16634111
613:(1): 63.
581:Archived
515:Archived
439:28 April
409:28 April
403:Archived
311:See also
216:autosome
133:gene on
79:allosome
28:autosome
1372:Plasmid
1226:Histone
1137:Meiosis
1132:Mitosis
849:3767307
800:1462039
493:1472426
485:7990924
465:Bibcode
40:diploid
30:is any
933:Genome
924:Ploidy
856:
846:
807:
797:
758:
688:
680:
643:
552:
491:
483:
457:Nature
377:
297:cancer
256:allele
154:Giemsa
71:humans
1210:TINF2
979:Types
910:Basic
686:S2CID
489:S2CID
119:genes
108:XXXXX
73:have
64:auDNA
60:atDNA
992:(or
854:PMID
805:PMID
756:PMID
678:PMID
641:ISBN
550:ISBN
523:2015
481:PMID
441:2018
411:2018
375:ISBN
139:SOX9
131:SOX9
112:XXYY
104:XXXX
1244:H2B
1239:H2A
844:PMC
836:doi
795:PMC
787:doi
783:160
746:doi
670:doi
633:doi
473:doi
461:372
299:to
148:or
127:TDF
123:SRY
110:or
100:XXX
96:XXY
92:XYY
62:or
56:DNA
26:An
1652::
1561:22
1556:21
1551:20
1546:19
1541:18
1536:17
1531:16
1526:15
1521:14
1516:13
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1506:11
1501:10
1287:C2
1282:C1
1254:H4
1249:H3
1234:H1
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1423:e
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1347:T
1342:Q
1337:P
1332:O
1327:N
1322:M
1317:K
1312:J
1307:I
1302:H
1297:F
1292:E
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