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Human genetics

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263: 220: 112: 3018: 155: 251: 242:, or mating between closely related organisms, can clearly be seen on pedigree charts. Pedigree charts of royal families often have a high degree of inbreeding, because it was customary and preferable for royalty to marry another member of royalty. Genetic counselors commonly use pedigrees to help couples determine if the parents will be able to produce healthy children. 195:. X inactivation is when one of the two X chromosomes in females is almost completely inactivated. It is important that this process occurs otherwise a woman would produce twice the amount of normal X chromosome proteins. The mechanism for X inactivation will occur during the embryonic stage. For people with disorders like 544:
Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of inheritance. Since humans have many more genes on the X
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inherited from the maternal side. Fathers only pass on their Y chromosome to their sons, so no X-linked traits will be inherited from father to son. Men cannot be carriers for recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited from the mother will show up.
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Females express X-linked disorders when they are homozygous for the disorder and become carriers when they are heterozygous. X-linked dominant inheritance will show the same phenotype as a heterozygote and homozygote. Just like X-linked inheritance, there will be a lack of male-to-male inheritance,
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Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be passed on through families. For a recessive trait or disease to be displayed two copies of the trait or disorder needs to be presented. The trait or gene will be located on a non-sex chromosome. Because
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Four different traits can be identified by pedigree chart analysis: autosomal dominant, autosomal recessive, x-linked, or y-linked. Partial penetrance can be shown and calculated from pedigrees. Penetrance is the percentage expressed frequency with which individuals of a given genotype manifest at
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is a diagram showing the ancestral relationships and transmission of genetic traits over several generations in a family. Square symbols are almost always used to represent males, whilst circles are used for females. Pedigrees are used to help detect many different genetic diseases. A pedigree can
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X-linked genes are found on the sex X chromosome. X-linked genes just like autosomal genes have both dominant and recessive types. Recessive X-linked disorders are rarely seen in females and usually only affect males. This is because males inherit their X chromosome and all X-linked genes will be
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Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only
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it takes two copies of a trait to display a trait, many people can unknowingly be carriers of a disease. From an evolutionary perspective, a recessive disease or trait can remain hidden for several generations before displaying the phenotype. Examples of autosomal recessive disorders are
138:" because a single copy—inherited from either parent—is enough to cause this trait to appear. This often means that one of the parents must also have the same trait, unless it has arisen due to an unlikely new mutation. Examples of autosomal dominant traits and disorders are 2161: 206:
Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. Since Y chromosomes can only be found in males, Y linked traits are only passed on from father to son. The
335:, can be used to observe deletions, insertions, and translocations. FISH uses fluorescent probes to bind to specific sequences of the chromosomes that will cause the chromosomes to fluoresce a unique color. 460: 390:
would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.
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stage arranged according to length and centromere position. A karyotype can also be useful in clinical genetics, due to its ability to diagnose genetic disorders. On a normal karyotype,
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Population genetics is the branch of evolutionary biology responsible for investigating processes that cause changes in allele and genotype frequencies in populations based upon
1574: 452:, the "power houses" of a cell, have their own DNA. Mitochondria are inherited from one's mother, and their DNA is frequently used to trace maternal lines of descent (see 424:. A population can be defined as a group of interbreeding individuals and their offspring. For human genetics the populations will consist only of the human species. The 459: 1902: 773: 2085: 188:, which is caused by a mutation in ribosomal protein gene. This mutation results in skeletal, craniofacial abnormalities, mental retardation, and short stature. 2727: 1412: 2609: 386:. Medical genetics is the application of genetics to medical care. It overlaps human genetics, for example, research on the causes and inheritance of 199:, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. Males with 1962: 2783: 2569: 357:
is the total collection of genes in a human being contained in the human chromosome, composed of over three billion nucleotides. In April 2003, the
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was able to sequence all the DNA in the human genome, and to discover that the human genome was composed of around 20,000 protein coding genes.
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than Y-linked traits. However, females carry two or more copies of the X chromosome, resulting in a potentially toxic dose of
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Rearrangement of one or both X chromosomes, deletion of part of the second X chromosome, presence of part of a Y chromosome
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Scott, C. I. (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome".
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Cruz-Gonzalez, L.; Lisker, R. (1982). "Inheritance of ear wax types, ear lobe attachment and tongue rolling ability".
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Freeman, Scott; Jon C., Herron (2007). "Evolutionary Analysis" (4th ed.). Upper Saddle River: Pearson:Prentice Hall.
203:, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome. 2918: 2834: 2619: 597: 185: 3049: 2891: 2763: 2690: 2670: 1514: 208: 778: 568:(XCI), female mammals transcriptionally silence one of their two Xs in a complex and highly coordinated manner. 2941: 2936: 2911: 2788: 2756: 1085: 483: 262: 35: 28: 1775: 3290: 3022: 2923: 2906: 2817: 2793: 2773: 2744: 2633: 2555: 1142: 814: 139: 2035: 1966: 1863: 1475: 1247: 2822: 2805: 2768: 2658: 2527: 1711: 1597: 1547: 1009: 865: 76: 2876: 2643: 405: 279: 134:
Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)—they are called "
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also be used to help determine the chances for a parent to produce an offspring with a specific trait.
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Genomics is the field of genetics concerned with structural and functional studies of the genome. A
331:. G-banding will stain the chromosomes with light and dark bands unique to each chromosome. A FISH, 3264: 2863: 2663: 2532: 2210: 1262: 958: 561: 399: 383: 353:
is all the DNA contained within an organism or a cell including nuclear and mitochondrial DNA. The
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Plomin, Robert; DeFries, John C.; Knopik, Valerie S.; Neiderhiser, Jenae M. (24 September 2012).
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is a very useful tool in cytogenetics. A karyotype is picture of all the chromosomes in the
271: 92: 1495: 3269: 2680: 2327:. Shaun Purcell (Appendix: Statistical Methods in Behavioral Genetics). Worth Publishers. 1371: 1157: 829: 703: 622: 585: 523: 184:
which makes it distinguishable from autosomal traits. One example of an X-linked trait is
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can be detected by clearly being able to observe any missing or extra chromosomes.
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Speicher, Michael R.; Antonarakis, Stylianos E.; Motulsky, Arno G., eds. (2010).
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defects related to accelerated aging and/or increased risk of cancer please see:
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To correct this imbalance, mammalian females have evolved a unique mechanism of
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Flint, Jonathan; Greenspan, Ralph J.; Kendler, Kenneth S. (28 January 2010).
1864:"Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease" 1992: 417: 316: 305: 301: 293: 275: 267: 255: 196: 91:
basic features of human genetics; for the genetics of disorders please see:
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Nussbaum, Robert L.; McInnes, Roderick R.; Willard, Huntington F. (2007).
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is a widely used principle to determine allelic and genotype frequencies.
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least some degree of a specific mutant phenotype associated with a trait.
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An example of a family pedigree displaying an autosomal recessive trait
456:). Mitochondrial DNA is only 16kb in length and encodes for 62 genes. 2243:. Massachusetts: Massachusetts Institute of Technology. p. 227. 2036:"Primary hyperhidrosis – Evidence for autosomal dominant inheritance" 1073: 1067: 944: 788: 502: 491: 350: 1870:. Children's Hospital of Pittsburgh. 3 February 2008. Archived from 258:
of a human male, showing 46 chromosomes including XY sex chromosomes
526:. Males have two distinct sex chromosomes (XY), and are called the 1040: 487: 458: 261: 249: 218: 153: 110: 48: 2547: 2542: 2016: 2162:
Mosby's Dictionary of Medicine, Nursing & Health Professions
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McKusick, Victor A.; O'Neill, Marla J. F. (22 November 2010).
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Vogel and Motulsky's Human Genetics: Problems and Approaches
1965:. University of Cincinnati Clermont College. Archived from 1433: 1431: 1429: 1427: 1018:
Ability to roll tongue (Able to hold tongue in a U shape)
1621:"Natural selection at work in genetic variation to taste" 2468:
The Dependent Gene: The Fallacy of "nature VS. Nurture"
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The Dependent Gene: The Fallacy of "Nature vs. Nurture"
408:. Four different forces can influence the frequencies: 27:"Human Genetics" redirects here. For the journal, see 1795: 1793: 282:, both the male (XY) and female (XX) versions of the 2466:"The Tangled Tale of Genes and Environment: Moore's 2402:
Gluckman, Peter; Beedle, Alan; Hanson, Mark (2009).
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X chromosomes in females undergo a process known as
3245: 3231: 3204: 3081: 3072: 2862: 2679: 2585: 34:For a non-technical introduction to the topic, see 2403: 2350: 1782:. Johns Hopkins University. 117800. Archived from 1718:. Johns Hopkins University. 119000. Archived from 1604:. Johns Hopkins University. 126100. Archived from 1554:. Johns Hopkins University. 194000. Archived from 1494: 1821:Chen, Harold (2019-03-08). Buehler, Bruce (ed.). 1735:"A Gene for Freckles Maps to Chromosome 4q32–q34" 987:Counter-Clockwise hair direction (right to left) 41:Study of inheritance as it occurs in human beings 1640: 1638: 1352:Partial deletion of a chromosome in the B Group 122:Inheritance of traits for humans are based upon 2086:"Lactose Intolerance (Lactase Non-Persistence)" 564:. In particular, by way of the process called 1672:McKusick, Victor A.; Lopez, A (30 July 2010). 382:that involves the diagnosis and management of 3050: 2563: 2543:MITOMAP A human mitochondrial genome database 2034:Kaufmann, Horacio; et al. (April 2003). 1989:Journal of the Turkish Academy of Dermatology 1674:"Earlobe Attachment, Attached vs. Unattached" 158:Autosomal recessive inheritance, a 25% chance 8: 1569: 1567: 1565: 1469: 1467: 518:). Females have two of the same kind of sex 510:of an individual is determined by a pair of 107:Genetic differences and inheritance patterns 47:is the study of inheritance as it occurs in 2088:. Colorado State University. Archived from 2023:. National Human Genome Research Institute. 3078: 3057: 3043: 3035: 2570: 2556: 2548: 1581:. Singapore Science Centre. Archived from 2485: 2390: 2185:"Cri Du Chat Syndrome (Cat Cry Syndrome)" 1895:"Looking at the Sun Can Trigger a Sneeze" 1750: 319:, of the karyotype can be used to detect 2373:Debby Tsuang; Andrew David (June 2011). 1810:. San Diego Supercomputer Center (SDSC). 1776:"Apocrine Gland Secretion, Variation in" 1546:McKusick, Victor A. (10 February 2009). 983:Clockwise hair direction (left to right) 864:Human traits with possible monogenic or 1442:(7th ed.). Philadelphia: Saunders. 1423: 95:. For information on the genetics of 2499:Human Heredity: Principles and Issues 1936:Birth Defects Original Article Series 1710:McKusick, Victor A. (23 March 2013). 1691:McDonald, John H. (8 December 2011). 1496:"Can Sinus Bradycardia Be Inherited?" 274:. It shows dark and white regions on 7: 2497:Cummings, Michael (1 January 2013). 2141:. Barbara Strickland. Archived from 1980:TĂĽzĂĽn, Yalçın; Karaku, Ă–zge (2009). 1739:Journal of Investigative Dermatology 1596:McKusick, Victor A. (25 June 1994). 1413:Johns Hopkins Human Genetics Program 1364:One or more extra sex chromosome(s) 2501:(10th ed.). Cengage Learning. 2410:. Oxford: Oxford University Press. 2406:Principles of Evolutionary Medicine 2297:. Heidelberg: Springer Scientific. 1780:Online Mendelian Inheritance in Man 1733:Xue-Jun Zhang; et al. (2004). 1716:Online Mendelian Inheritance in Man 1680:. Johns Hopkins University. 128900. 1678:Online Mendelian Inheritance in Man 1602:Online Mendelian Inheritance in Man 1552:Online Mendelian Inheritance in Man 2639:Blood type distribution by country 2379:The American Journal of Psychiatry 2017:"Learning About Trimethylaminuria" 1893:Schrock, Karen (10 January 2008). 1408:List of Mendelian traits in humans 874:List of Mendelian traits in humans 25: 2464:Susan M Schneider (Spring 2007). 2269:Encyclopedia of Special Education 2215:Encyclopedia of Special Education 2189:Encyclopedia of Special Education 1840:Stafford, Kate; Mannor, Michael. 1619:Wooding, Stephen (28 June 2004). 333:fluorescent in situ hybridization 175:X-linked and Y-linked inheritance 3017: 3016: 1961:Fankhauser, D. B. (2 Feb 2006). 1923:from the original on 2012-02-01. 1905:from the original on 2011-03-19. 1752:10.1046/j.0022-202x.2004.22244.x 1631:from the original on 2007-12-13. 1503:. Massachusetts Medical Society. 1235:Absence of fish-like body odour 327:, duplications, inversions, and 1842:"Mutations and Genetic Disease" 1275:less prominent chin (U-shaped) 286:(bottom right), as well as the 150:Autosomal recessive inheritance 2528:How many Genes do humans have? 2392:10.1176/appi.ajp.2011.11010097 2375:"How Genes Influence Behavior" 1393:DNA repair-deficiency disorder 130:Autosomal dominant inheritance 101:DNA repair-deficiency disorder 1: 2425:Hamilton, Matthew B. (2009). 1823:"Genetics of Marfan Syndrome" 1033:Normal five fingers and toes 2353:How Genes Influence Behavior 2241:Neurodevelopmental Disorders 2135:"Acne is a Four Letter Word" 2113:"Variations on a Human Face" 1848:. ThinkQuest. Archived from 1801:"Mendelian Traits in Humans" 1006:No progressive nerve damage 2357:. Oxford University Press. 2120:Science Experiments on File 2084:Bowen, R. (25 April 2009). 2043:Clinical Autonomic Research 1476:"X Chromosome Inactivation" 1398:Human evolutionary genetics 1340:Additional 21st chromosome 1320: 1225:and Bart pumphrey syndrome 877: 839:Vitamin D resistant rickets 716:Becker's Muscular Dystrophy 641:Duchenne muscular dystrophy 570: 480:XY sex-determination system 474:XY sex-determination system 270:of a human, with annotated 3307: 2620:Neanderthal genome project 2165:. Elsevier Health Sciences 1272:Prominent chin (V-shaped) 1021:No ability to roll tongue 970:Unattached (free) earlobe 871: 590:Absence of blood in urine 537: 471: 440:, humans (like almost all 397: 368: 342: 291: 33: 26: 3012: 2303:10.1007/978-3-540-37654-5 2055:10.1007/s10286-003-0082-x 1699:. University of Delaware. 1579:ScienceNet – Life Science 1474:Ahn, J.; Lee, J. (2008). 1298:Cartilage–hair hypoplasia 1252:little sweating in hands 1111:Normal separated fingers 736:No progressive blindness 666:Absence of brain defects 602:No cranial malformations 566:X-chromosome inactivation 522:(XX), and are called the 209:testis determining factor 2757:Caucasus hunter-gatherer 2444:Moore, David S. (2003). 1963:"Human Heritable Traits" 1917:"Inherited Human Traits" 1135:Normal body proportions 1086:Cenani Lenz syndactylism 932:Normal digestive muscle 843:Absorption of Vitamin D 806:Wiskott–Aldrich syndrome 673:Absence of autoimmunity 484:sex-determination system 426:Hardy–Weinberg principle 36:Introduction to genetics 29:Human Genetics (journal) 3239:Human mitochondrial DNA 2818:Ancient Northeast Asian 2794:Eastern hunter-gatherer 2774:Western hunter-gatherer 2745:Early Anatolian farmers 2448:. New York: Macmillan. 1697:Myths of Human Genetics 1575:"Genetics/Reproduction" 826:Normal pigment in eyes 815:Focal dermal hypoplasia 712:Normal muscle strength 506:). In this system, the 118:pattern, a 50/50 chance 2823:Ancient Paleo-Siberian 2806:Ancient North Eurasian 2769:Early European Farmers 2211:"Klinefelter Syndrome" 1991:. JTAD. Archived from 1517:; Reece, Jane (2005). 1259:Lactose persistence * 866:oligogenic inheritance 855:Non colour perception 819:Normal pigmented skin 549:, there are many more 464: 297: 280:homologous chromosomes 259: 224: 159: 119: 77:developmental genetics 2644:Genealogical DNA test 2605:Evolutionary genetics 2237:Tager-Flusberg, Helen 2133:Strickland, Barbara. 2111:Jablecki, Donna Mae. 1248:Primary Hyperhidrosis 1210:Ability to eat sugar 1198:Ligamentous angustus 1154:Normal mucous lining 1099:Normal finger length 802:Normal immune levels 637:Strong muscle tissue 598:Coffin–Lowry syndrome 462: 406:Mendelian inheritance 292:Further information: 265: 253: 222: 186:Coffin–Lowry syndrome 157: 114: 3258:Human Genome Project 3233:Mitochondrial genome 2615:Neanderthal genetics 2598:Human Genome Project 2533:Human Genetics Video 2523:Human Genome Project 1440:Genetics in Medicine 1360:Klinefelter syndrome 1348:Cri du chat syndrome 1308:Disabling conditions 1228:partial leukonychia 1167:Photic sneeze reflex 1143:Huntington's disease 1123:No prominent bridge 1095:shortness in fingers 963:Unable to taste PTC 919:ocular hypertelorism 779:Lesch–Nyhan syndrome 654:Normal X chromosome 500:), and some plants ( 384:hereditary disorders 359:Human Genome Project 288:mitochondrial genome 201:Klinefelter syndrome 140:Huntington's disease 65:biochemical genetics 3265:List of human genes 2998:Sub-Saharan Africa 2967:Tamils (Sri Lankan) 2864:Population genetics 2671:Genetic enhancement 2664:Surname DNA project 2429:. Wiley-Blackwell. 2427:Population Genetics 2324:Behavioral Genetics 1899:Scientific American 1558:on 9 December 2015. 1482:. Nature Education. 1263:Lactose intolerance 1029:extra finger or toe 1010:Friedreich's ataxia 911:straight hair line 690:Absence of antigen 562:dosage compensation 400:Population genetics 394:Population genetics 272:bands and sub-bands 73:population genetics 1647:Acta Anthropogenet 1625:Medical News Today 1501:NEJM Journal Watch 1202:Ligamentous Laxity 1046:Hitchhiker's Thumb 950:No facial dimples 650:fragile X syndrome 465: 298: 290:(at bottom left). 260: 225: 215:Pedigrees analysis 160: 120: 116:Autosomal dominant 85:genetic counseling 61:molecular genetics 53:classical genetics 3278: 3277: 3270:Human archaeology 3227: 3226: 3032: 3031: 2852:Ancient Beringian 2654:Race and genetics 2649:Genetic genealogy 2634:Genetic variation 2508:978-1-133-10687-6 2455:978-0-8050-7280-8 2436:978-1-4051-3277-0 2417:978-0-19-923639-8 2364:978-0-19-955990-9 2334:978-1-4292-4215-8 2312:978-3-540-37653-8 1874:on 24 August 2009 1786:on 30 April 2017. 1722:on 29 April 2017. 1598:"Dimples, Facial" 1523:Benjamin Cummings 1521:. San Francisco: 1382: 1381: 1305: 1304: 1287:Clear complexion 1239:Trimethylaminuria 1223:Total leukonychia 1131:Marfan's syndrome 1082:Normal flat palm 861: 860: 748:No kidney damage 577:X-link recessive 528:heterogametic sex 454:mitochondrial Eve 446:mitochondrial DNA 432:Mitochondrial DNA 420:(migration), and 410:natural selection 388:genetic disorders 378:is the branch of 81:clinical genetics 16:(Redirected from 3298: 3079: 3059: 3052: 3045: 3036: 3020: 3019: 2721:African diaspora 2711:Eastern Africa‎‎ 2659:Recent evolution 2610:Human-chimp MRCA 2572: 2565: 2558: 2549: 2537:website critique 2512: 2491: 2489: 2462:Lay summary in: 2459: 2440: 2421: 2409: 2396: 2394: 2371:Lay summary in: 2368: 2356: 2345: 2343: 2341: 2316: 2281: 2280: 2278: 2276: 2261: 2255: 2254: 2233: 2227: 2226: 2224: 2222: 2207: 2201: 2200: 2198: 2196: 2181: 2175: 2174: 2172: 2170: 2153: 2147: 2146: 2130: 2124: 2123: 2122:. Facts on File. 2117: 2108: 2102: 2101: 2099: 2097: 2081: 2075: 2074: 2040: 2031: 2025: 2024: 2013: 2007: 2006: 2004: 2003: 1997: 1986: 1977: 1971: 1970: 1958: 1952: 1951: 1931: 1925: 1924: 1913: 1907: 1906: 1890: 1884: 1883: 1881: 1879: 1868:Medical Genetics 1860: 1854: 1853: 1846:Genetic Diseases 1837: 1831: 1830: 1818: 1812: 1811: 1805: 1797: 1788: 1787: 1771: 1765: 1764: 1754: 1730: 1724: 1723: 1707: 1701: 1700: 1688: 1682: 1681: 1669: 1663: 1662: 1642: 1633: 1632: 1616: 1610: 1609: 1608:on 9 April 2019. 1593: 1587: 1586: 1571: 1560: 1559: 1543: 1537: 1536: 1511: 1505: 1504: 1498: 1490: 1484: 1483: 1471: 1462: 1459: 1453: 1450: 1444: 1443: 1435: 1321: 1171:No ACHOO reflex 1147:No nerve damage 974:Attached earlobe 878: 765:No microcephaly 724:Unaffected body 662:Aicardi syndrome 613:Colour blindness 574:X-link dominant 571: 494:, some insects ( 376:Medical genetics 371:Medical genetics 365:Medical genetics 315:Giemsa banding, 93:medical genetics 21: 3306: 3305: 3301: 3300: 3299: 3297: 3296: 3295: 3281: 3280: 3279: 3274: 3241: 3223: 3200: 3068: 3063: 3033: 3028: 3008: 2988:Southeast Asia 2866: 2858: 2716:Southern Africa 2683: 2681:Genetic history 2675: 2581: 2576: 2519: 2509: 2496: 2463: 2456: 2443: 2437: 2424: 2418: 2401: 2372: 2365: 2348: 2339: 2337: 2335: 2320: 2313: 2292: 2289: 2287:Further reading 2284: 2274: 2272: 2263: 2262: 2258: 2251: 2235: 2234: 2230: 2220: 2218: 2209: 2208: 2204: 2194: 2192: 2183: 2182: 2178: 2168: 2166: 2157:"Down Syndrome" 2155: 2154: 2150: 2132: 2131: 2127: 2115: 2110: 2109: 2105: 2095: 2093: 2092:on 23 June 2010 2083: 2082: 2078: 2038: 2033: 2032: 2028: 2015: 2014: 2010: 2001: 1999: 1995: 1984: 1979: 1978: 1974: 1960: 1959: 1955: 1933: 1932: 1928: 1915: 1914: 1910: 1892: 1891: 1887: 1877: 1875: 1862: 1861: 1857: 1839: 1838: 1834: 1820: 1819: 1815: 1803: 1799: 1798: 1791: 1773: 1772: 1768: 1732: 1731: 1727: 1709: 1708: 1704: 1690: 1689: 1685: 1671: 1670: 1666: 1644: 1643: 1636: 1618: 1617: 1613: 1595: 1594: 1590: 1573: 1572: 1563: 1545: 1544: 1540: 1533: 1525:. p. 265. 1513: 1512: 1508: 1493:Calkins, Hugh. 1492: 1491: 1487: 1473: 1472: 1465: 1460: 1456: 1451: 1447: 1437: 1436: 1425: 1421: 1389: 1372:Turner syndrome 1315: 1310: 1188:White Forelock 1158:Cystic fibrosis 898:High heart rate 876: 870: 830:Ocular albinism 787:High levels of 728:Fabry's disease 704:Hunter syndrome 623:clotting factor 586:Alport syndrome 551:X-linked traits 542: 536: 534:X-linked traits 524:homogametic sex 512:sex chromosomes 476: 470: 436:In addition to 434: 402: 396: 373: 367: 347: 341: 296: 248: 217: 177: 169:cystic fibrosis 152: 132: 109: 42: 39: 32: 23: 22: 15: 12: 11: 5: 3304: 3302: 3294: 3293: 3291:Human genetics 3283: 3282: 3276: 3275: 3273: 3272: 3267: 3262: 3261: 3260: 3249: 3247: 3246:Related topics 3243: 3242: 3237: 3235: 3229: 3228: 3225: 3224: 3222: 3221: 3216: 3210: 3208: 3206:Sex chromosome 3202: 3201: 3199: 3198: 3193: 3188: 3183: 3178: 3173: 3168: 3163: 3158: 3153: 3148: 3143: 3138: 3133: 3128: 3123: 3118: 3113: 3108: 3103: 3098: 3093: 3087: 3085: 3076: 3074:Nuclear genome 3070: 3069: 3064: 3062: 3061: 3054: 3047: 3039: 3030: 3029: 3027: 3026: 3013: 3010: 3009: 3007: 3006: 3005: 3004: 2996: 2995: 2994: 2986: 2985: 2984: 2979: 2971: 2970: 2969: 2964: 2959: 2951: 2950: 2949: 2944: 2939: 2931: 2926: 2921: 2916: 2915: 2914: 2909: 2904: 2899: 2894: 2889: 2884: 2879: 2870: 2868: 2860: 2859: 2857: 2856: 2855: 2854: 2844: 2843: 2842: 2835:Southeast Asia 2832: 2831: 2830: 2825: 2820: 2810: 2809: 2808: 2798: 2797: 2796: 2791: 2786: 2781: 2776: 2771: 2761: 2760: 2759: 2749: 2748: 2747: 2737: 2736: 2735: 2725: 2724: 2723: 2718: 2713: 2708: 2706:Central Africa 2703: 2698: 2687: 2685: 2677: 2676: 2674: 2673: 2668: 2667: 2666: 2661: 2656: 2651: 2646: 2641: 2631: 2630: 2629: 2624: 2623: 2622: 2612: 2602: 2601: 2600: 2589: 2587: 2583: 2582: 2579:Human genetics 2577: 2575: 2574: 2567: 2560: 2552: 2546: 2545: 2540: 2530: 2525: 2518: 2517:External links 2515: 2514: 2513: 2507: 2494: 2493: 2492: 2454: 2441: 2435: 2422: 2416: 2399: 2398: 2397: 2385:(6): 656–657. 2363: 2346: 2333: 2317: 2311: 2288: 2285: 2283: 2282: 2256: 2249: 2228: 2202: 2176: 2148: 2145:on 2006-02-07. 2125: 2103: 2076: 2026: 2008: 1972: 1969:on 2012-02-23. 1953: 1942:(6): 240–246. 1926: 1908: 1885: 1855: 1852:on 2007-01-03. 1832: 1813: 1808:Human Genetics 1789: 1766: 1745:(2): 286–290. 1725: 1702: 1683: 1664: 1634: 1611: 1588: 1585:on 2003-09-25. 1561: 1548:"Widow's Peak" 1538: 1531: 1515:Campbell, Neil 1506: 1485: 1463: 1454: 1445: 1422: 1420: 1417: 1416: 1415: 1410: 1405: 1400: 1395: 1388: 1385: 1380: 1379: 1377: 1374: 1368: 1367: 1365: 1362: 1356: 1355: 1353: 1350: 1344: 1343: 1341: 1338: 1332: 1331: 1328: 1325: 1309: 1306: 1303: 1302: 1300: 1295: 1294:Normal height 1291: 1290: 1288: 1285: 1279: 1278: 1276: 1273: 1269: 1268: 1266: 1260: 1256: 1255: 1253: 1250: 1244: 1243: 1241: 1236: 1232: 1231: 1229: 1226: 1219: 1218: 1216: 1211: 1207: 1206: 1204: 1199: 1195: 1194: 1192: 1191:Dark Forelock 1189: 1185: 1184: 1182: 1181:Receding chin 1179: 1175: 1174: 1172: 1169: 1163: 1162: 1160: 1155: 1151: 1150: 1148: 1145: 1139: 1138: 1136: 1133: 1127: 1126: 1124: 1121: 1115: 1114: 1112: 1109: 1107:Webbed fingers 1103: 1102: 1100: 1097: 1091: 1090: 1088: 1083: 1079: 1078: 1076: 1070: 1063: 1062: 1060: 1057: 1051: 1050: 1048: 1043: 1041:Straight Thumb 1037: 1036: 1034: 1031: 1025: 1024: 1022: 1019: 1015: 1014: 1012: 1007: 1003: 1002: 1000: 997: 991: 990: 988: 985: 979: 978: 976: 971: 967: 966: 964: 961: 957:Able to taste 954: 953: 951: 948: 945:Facial dimples 941: 940: 938: 936:POLIP syndrome 933: 929: 928: 926: 921: 915: 914: 912: 909: 903: 902: 900: 895: 893:Low heart rate 889: 888: 885: 882: 872:Main article: 869: 862: 859: 858: 856: 853: 847: 846: 844: 841: 835: 834: 832: 827: 823: 822: 820: 817: 811: 810: 808: 803: 799: 798: 796: 794:Menkes disease 791: 784: 783: 781: 776: 772:Production of 769: 768: 766: 763: 757: 756: 754: 752:Dent's disease 749: 745: 744: 742: 737: 733: 732: 730: 725: 721: 720: 718: 713: 709: 708: 706: 701: 697:Production of 694: 693: 691: 688: 682: 681: 679: 674: 670: 669: 667: 664: 658: 657: 655: 652: 646: 645: 643: 638: 634: 633: 631: 625: 618: 617: 615: 610: 609:Colour vision 606: 605: 603: 600: 594: 593: 591: 588: 582: 581: 578: 575: 555:X-linked genes 538:Main article: 535: 532: 472:Main article: 469: 466: 463:XY Chromosomes 433: 430: 398:Main article: 395: 392: 369:Main article: 366: 363: 343:Main article: 340: 337: 329:translocations 284:sex chromosome 278:. It shows 22 247: 244: 216: 213: 193:X inactivation 176: 173: 151: 148: 144:achondroplasia 131: 128: 108: 105: 45:Human genetics 40: 24: 18:Human Genetics 14: 13: 10: 9: 6: 4: 3: 2: 3303: 3292: 3289: 3288: 3286: 3271: 3268: 3266: 3263: 3259: 3256: 3255: 3254: 3251: 3250: 3248: 3244: 3240: 3236: 3234: 3230: 3220: 3217: 3215: 3212: 3211: 3209: 3207: 3203: 3197: 3194: 3192: 3189: 3187: 3184: 3182: 3179: 3177: 3174: 3172: 3169: 3167: 3164: 3162: 3159: 3157: 3154: 3152: 3149: 3147: 3144: 3142: 3139: 3137: 3134: 3132: 3129: 3127: 3124: 3122: 3119: 3117: 3114: 3112: 3109: 3107: 3104: 3102: 3099: 3097: 3094: 3092: 3089: 3088: 3086: 3084: 3080: 3077: 3075: 3071: 3067: 3060: 3055: 3053: 3048: 3046: 3041: 3040: 3037: 3025: 3024: 3015: 3014: 3011: 3003: 3000: 2999: 2997: 2993: 2990: 2989: 2987: 2983: 2980: 2978: 2975: 2974: 2972: 2968: 2965: 2963: 2960: 2958: 2955: 2954: 2952: 2948: 2945: 2943: 2940: 2938: 2935: 2934: 2932: 2930: 2927: 2925: 2922: 2920: 2917: 2913: 2910: 2908: 2905: 2903: 2900: 2898: 2895: 2893: 2890: 2888: 2885: 2883: 2880: 2878: 2875: 2874: 2872: 2871: 2869: 2865: 2861: 2853: 2850: 2849: 2848: 2845: 2841: 2838: 2837: 2836: 2833: 2829: 2826: 2824: 2821: 2819: 2816: 2815: 2814: 2811: 2807: 2804: 2803: 2802: 2799: 2795: 2792: 2790: 2787: 2785: 2782: 2780: 2779:British Isles 2777: 2775: 2772: 2770: 2767: 2766: 2765: 2762: 2758: 2755: 2754: 2753: 2750: 2746: 2743: 2742: 2741: 2738: 2734: 2731: 2730: 2729: 2726: 2722: 2719: 2717: 2714: 2712: 2709: 2707: 2704: 2702: 2701:West Africa‎‎ 2699: 2697: 2694: 2693: 2692: 2689: 2688: 2686: 2682: 2678: 2672: 2669: 2665: 2662: 2660: 2657: 2655: 2652: 2650: 2647: 2645: 2642: 2640: 2637: 2636: 2635: 2632: 2628: 2625: 2621: 2618: 2617: 2616: 2613: 2611: 2608: 2607: 2606: 2603: 2599: 2596: 2595: 2594: 2591: 2590: 2588: 2584: 2580: 2573: 2568: 2566: 2561: 2559: 2554: 2553: 2550: 2544: 2541: 2538: 2534: 2531: 2529: 2526: 2524: 2521: 2520: 2516: 2510: 2504: 2500: 2495: 2488: 2483: 2480:(1): 91–105. 2479: 2475: 2471: 2469: 2461: 2460: 2457: 2451: 2447: 2442: 2438: 2432: 2428: 2423: 2419: 2413: 2408: 2407: 2400: 2393: 2388: 2384: 2380: 2376: 2370: 2369: 2366: 2360: 2355: 2354: 2347: 2336: 2330: 2326: 2325: 2318: 2314: 2308: 2304: 2300: 2296: 2291: 2290: 2286: 2270: 2266: 2260: 2257: 2252: 2250:0-262-20116-X 2246: 2242: 2238: 2232: 2229: 2216: 2212: 2206: 2203: 2190: 2186: 2180: 2177: 2164: 2163: 2158: 2152: 2149: 2144: 2140: 2136: 2129: 2126: 2121: 2114: 2107: 2104: 2091: 2087: 2080: 2077: 2072: 2068: 2064: 2060: 2056: 2052: 2048: 2044: 2037: 2030: 2027: 2022: 2018: 2012: 2009: 1998:on 2016-03-03 1994: 1990: 1983: 1982:"Leukonychia" 1976: 1973: 1968: 1964: 1957: 1954: 1949: 1945: 1941: 1937: 1930: 1927: 1922: 1918: 1912: 1909: 1904: 1900: 1896: 1889: 1886: 1873: 1869: 1865: 1859: 1856: 1851: 1847: 1843: 1836: 1833: 1828: 1824: 1817: 1814: 1809: 1802: 1796: 1794: 1790: 1785: 1781: 1777: 1770: 1767: 1762: 1758: 1753: 1748: 1744: 1740: 1736: 1729: 1726: 1721: 1717: 1713: 1706: 1703: 1698: 1694: 1687: 1684: 1679: 1675: 1668: 1665: 1660: 1656: 1653:(4): 247–54. 1652: 1648: 1641: 1639: 1635: 1630: 1626: 1622: 1615: 1612: 1607: 1603: 1599: 1592: 1589: 1584: 1580: 1576: 1570: 1568: 1566: 1562: 1557: 1553: 1549: 1542: 1539: 1534: 1532:0-07-366175-9 1528: 1524: 1520: 1516: 1510: 1507: 1502: 1497: 1489: 1486: 1481: 1477: 1470: 1468: 1464: 1458: 1455: 1449: 1446: 1441: 1434: 1432: 1430: 1428: 1424: 1418: 1414: 1411: 1409: 1406: 1404: 1401: 1399: 1396: 1394: 1391: 1390: 1386: 1384: 1378: 1375: 1373: 1370: 1369: 1366: 1363: 1361: 1358: 1357: 1354: 1351: 1349: 1346: 1345: 1342: 1339: 1337: 1336:Down syndrome 1334: 1333: 1329: 1326: 1323: 1322: 1319: 1318: 1314: 1307: 1301: 1299: 1296: 1293: 1292: 1289: 1286: 1284: 1281: 1280: 1277: 1274: 1271: 1270: 1267: 1264: 1261: 1258: 1257: 1254: 1251: 1249: 1246: 1245: 1242: 1240: 1237: 1234: 1233: 1230: 1227: 1224: 1221: 1220: 1217: 1215: 1212: 1209: 1208: 1205: 1203: 1200: 1197: 1196: 1193: 1190: 1187: 1186: 1183: 1180: 1177: 1176: 1173: 1170: 1168: 1165: 1164: 1161: 1159: 1156: 1153: 1152: 1149: 1146: 1144: 1141: 1140: 1137: 1134: 1132: 1129: 1128: 1125: 1122: 1120: 1117: 1116: 1113: 1110: 1108: 1105: 1104: 1101: 1098: 1096: 1093: 1092: 1089: 1087: 1084: 1081: 1080: 1077: 1075: 1071: 1069: 1065: 1064: 1061: 1058: 1056: 1053: 1052: 1049: 1047: 1044: 1042: 1039: 1038: 1035: 1032: 1030: 1027: 1026: 1023: 1020: 1017: 1016: 1013: 1011: 1008: 1005: 1004: 1001: 998: 996: 993: 992: 989: 986: 984: 981: 980: 977: 975: 972: 969: 968: 965: 962: 960: 956: 955: 952: 949: 946: 943: 942: 939: 937: 934: 931: 930: 927: 925: 922: 920: 917: 916: 913: 910: 908: 905: 904: 901: 899: 896: 894: 891: 890: 886: 883: 880: 879: 875: 867: 863: 857: 854: 852: 849: 848: 845: 842: 840: 837: 836: 833: 831: 828: 825: 824: 821: 818: 816: 813: 812: 809: 807: 804: 801: 800: 797: 795: 792: 790: 786: 785: 782: 780: 777: 775: 771: 770: 767: 764: 762: 761:Rett syndrome 759: 758: 755: 753: 750: 747: 746: 743: 741: 740:Choroideremia 738: 735: 734: 731: 729: 726: 723: 722: 719: 717: 714: 711: 710: 707: 705: 702: 700: 696: 695: 692: 689: 687: 686:Xg blood type 684: 683: 680: 678: 677:IPEX syndrome 675: 672: 671: 668: 665: 663: 660: 659: 656: 653: 651: 648: 647: 644: 642: 639: 636: 635: 632: 629: 626: 624: 620: 619: 616: 614: 611: 608: 607: 604: 601: 599: 596: 595: 592: 589: 587: 584: 583: 579: 576: 573: 572: 569: 567: 563: 558: 556: 552: 548: 541: 533: 531: 529: 525: 521: 517: 513: 509: 505: 504: 499: 498: 493: 490:, most other 489: 485: 481: 475: 468:Genes and sex 467: 461: 457: 455: 451: 447: 443: 439: 431: 429: 427: 423: 422:genetic drift 419: 415: 411: 407: 401: 393: 391: 389: 385: 381: 377: 372: 364: 362: 360: 356: 352: 346: 338: 336: 334: 330: 326: 322: 318: 313: 311: 307: 303: 295: 289: 285: 281: 277: 273: 269: 264: 257: 254:Micrographic 252: 245: 243: 241: 237: 233: 230: 221: 214: 212: 210: 204: 202: 198: 194: 189: 187: 181: 174: 172: 170: 166: 156: 149: 147: 145: 141: 137: 129: 127: 125: 124:Gregor Mendel 117: 113: 106: 104: 102: 98: 94: 88: 86: 82: 78: 74: 70: 66: 62: 58: 54: 50: 46: 37: 30: 19: 3253:Human genome 3066:Human genome 3021: 2919:Azerbaijanis 2801:Central Asia 2696:North Africa 2593:Human genome 2578: 2498: 2477: 2473: 2467: 2445: 2426: 2405: 2382: 2378: 2352: 2338:. Retrieved 2323: 2294: 2275:27 September 2273:. Retrieved 2268: 2259: 2240: 2231: 2221:27 September 2219:. Retrieved 2214: 2205: 2195:27 September 2193:. Retrieved 2188: 2179: 2169:27 September 2167:. Retrieved 2160: 2151: 2143:the original 2138: 2128: 2119: 2106: 2094:. Retrieved 2090:the original 2079: 2049:(2): 96–98. 2046: 2042: 2029: 2020: 2011: 2000:. Retrieved 1993:the original 1988: 1975: 1967:the original 1956: 1939: 1935: 1929: 1911: 1898: 1888: 1878:28 September 1876:. Retrieved 1872:the original 1867: 1858: 1850:the original 1845: 1835: 1829:. WebMD LLC. 1826: 1816: 1807: 1784:the original 1779: 1769: 1742: 1738: 1728: 1720:the original 1715: 1712:"Cleft Chin" 1705: 1696: 1693:"Hair Whorl" 1686: 1677: 1667: 1650: 1646: 1624: 1614: 1606:the original 1601: 1591: 1583:the original 1578: 1556:the original 1551: 1541: 1518: 1509: 1500: 1488: 1479: 1457: 1448: 1439: 1403:Human genome 1383: 1316: 1312: 1311: 1214:Galactosemia 1178:Forged chin 1059:No freckles 999:smooth chin 924:Hypotelorism 907:Widow's peak 559: 554: 543: 515: 511: 501: 495: 479: 477: 450:Mitochondria 435: 403: 375: 374: 355:human genome 348: 314: 299: 238: 234: 226: 205: 190: 182: 178: 161: 133: 121: 89: 57:cytogenetics 49:human beings 44: 43: 2977:Han Chinese 2953:South Asia 2740:Middle East 2474:Behav Anal. 2340:4 September 2139:Sage Advice 1919:. EdQuest. 1330:References 1317:Chromosomal 887:References 851:Synesthesia 628:Haemophilia 580:References 540:Sex linkage 438:nuclear DNA 3002:Hutu/Tutsi 2973:East Asia 2887:Bulgarians 2728:South Asia 2586:Sub-topics 2476:(Review). 2381:(Review). 2265:"Etiology" 2021:genome.gov 2002:2012-03-03 1419:References 1283:Acne prone 1119:Roman nose 995:Cleft chin 884:Recessive 630:A & B 520:chromosome 497:Drosophila 442:eukaryotes 325:insertions 310:aneuploidy 266:Schematic 240:Inbreeding 97:DNA repair 2992:Filipinos 2962:Sinhalese 2957:Gujaratis 2947:Moroccans 2942:Egyptians 2897:Romanians 2813:East Asia 2684:by region 1072:Dry-type 1066:Wet-type 881:Dominant 545:than the 516:gonosomes 486:found in 418:gene flow 321:deletions 317:g-banding 306:metaphase 302:karyotype 294:Karyotype 276:G banding 268:karyogram 256:karyogram 246:Karyotype 197:trisomy X 3285:Category 3083:Autosome 3023:Category 2982:Japanese 2902:Russians 2882:Bosniaks 2867:by group 2840:Thailand 2752:Caucasus 2627:Timeline 2239:(1999). 2071:37824317 2063:12720093 1921:Archived 1903:Archived 1827:Medscape 1761:15009706 1629:Archived 1480:SciTable 1387:See also 1055:Freckles 868:patterns 414:mutation 380:medicine 345:Genomics 339:Genomics 229:pedigree 165:albinism 136:dominant 69:genomics 2877:Basques 2873:Europe 2847:America 2487:2223161 2271:. Wiley 2217:. Wiley 2191:. Wiley 1948:5173168 1659:7187238 1519:Biology 1327:Source 1324:Effect 1313:Genetic 621:Normal 492:mammals 482:is the 444:) have 2892:Croats 2784:Iberia 2764:Europe 2691:Africa 2505:  2484:  2452:  2433:  2414:  2361:  2331:  2309:  2247:  2096:31 May 2069:  2061:  1946:  1759:  1657:  1529:  1074:earwax 1068:earwax 789:copper 503:Ginkgo 488:humans 351:genome 83:, and 2937:Arabs 2933:MENA 2929:Turks 2912:Serbs 2828:China 2789:Italy 2733:India 2116:(PDF) 2067:S2CID 2039:(PDF) 1996:(PDF) 1985:(PDF) 1804:(PDF) 774:HGPRT 2924:Jews 2907:Sami 2503:ISBN 2450:ISBN 2431:ISBN 2412:ISBN 2359:ISBN 2342:2013 2329:ISBN 2307:ISBN 2277:2013 2245:ISBN 2223:2013 2197:2013 2171:2013 2098:2012 2059:PMID 1944:PMID 1880:2011 1757:PMID 1655:PMID 1527:ISBN 699:GAGs 478:The 142:and 2482:PMC 2387:doi 2383:168 2299:doi 2051:doi 1747:doi 1743:122 959:PTC 508:sex 3287:: 3196:22 3191:21 3186:20 3181:19 3176:18 3171:17 3166:16 3161:15 3156:14 3151:13 3146:12 3141:11 3136:10 2478:30 2472:. 2377:. 2305:. 2267:. 2213:. 2187:. 2159:. 2137:. 2118:. 2065:. 2057:. 2047:13 2045:. 2041:. 2019:. 1987:. 1938:. 1901:. 1897:. 1866:. 1844:. 1825:. 1806:. 1792:^ 1778:. 1755:. 1741:. 1737:. 1714:. 1695:. 1676:. 1649:. 1637:^ 1627:. 1623:. 1600:. 1577:. 1564:^ 1550:. 1499:. 1478:. 1466:^ 1426:^ 1265:* 947:* 557:. 530:. 448:. 416:, 412:, 323:, 300:A 227:A 171:. 167:, 146:. 103:. 87:. 79:, 75:, 71:, 67:, 63:, 59:, 55:, 3219:Y 3214:X 3131:9 3126:8 3121:7 3116:6 3111:5 3106:4 3101:3 3096:2 3091:1 3058:e 3051:t 3044:v 2571:e 2564:t 2557:v 2539:) 2535:( 2511:. 2490:. 2470:" 2458:. 2439:. 2420:. 2395:. 2389:: 2367:. 2344:. 2319:* 2315:. 2301:: 2279:. 2253:. 2225:. 2199:. 2173:. 2100:. 2073:. 2053:: 2005:. 1950:. 1940:7 1882:. 1763:. 1749:: 1661:. 1651:6 1535:. 547:Y 514:( 38:. 31:. 20:)

Index

Human Genetics
Human Genetics (journal)
Introduction to genetics
human beings
classical genetics
cytogenetics
molecular genetics
biochemical genetics
genomics
population genetics
developmental genetics
clinical genetics
genetic counseling
medical genetics
DNA repair
DNA repair-deficiency disorder

Autosomal dominant
Gregor Mendel
dominant
Huntington's disease
achondroplasia

albinism
cystic fibrosis
Coffin–Lowry syndrome
X inactivation
trisomy X
Klinefelter syndrome
testis determining factor

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