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45,X/46,XY mosaicism

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66: 226:, one chromosome can be lost. In 45,X/46,XY, most or all of the Y chromosome is lost in one of the newly created cells. All the cells then made from this cell will lack the Y chromosome. All the cells created from the cells that have not lost the Y chromosome will be XY. The 46,XY cells will continue to multiply at the same time as the 45,X cells multiply. The embryo, then the fetus, and then eventually the baby will have what is known as a 45,X/46,XY constitution. 284: 135:, with a significant number of individuals showing genital abnormalities or mixed sex characteristics. A significantly higher than average number of other developmental abnormalities are also found in individuals with X0/XY mosaicism. Psychomotor development is normal. 260:), maternal age or abnormal ultrasounds, while others will be diagnosed postnatal due to external genital malformation. It is not uncommon for patients to be diagnosed later in life due to short stature or delayed puberty, or a combination of both. 170:
There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. Most patients with this karyotype are known to have abnormal gonadal
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has significant clinical implications due to known effects on growth, hormonal balance, gonadal development and histology. 45,X/46,XY is diagnosed by examining the chromosomes in a blood sample.
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at birth, with an estimated incidence rate of about 1 in 15,000 live births. Mosaic loss of the Y chromosome in previously non-mosaic men grows increasingly common with age.
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There are many chromosomal variations that cause the 45,X/46,XY karyotype, including malformation (isodicentricism) of the Y chromosomes, deletions of Y chromosome or
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may be asymmetrical, too. Because of the presence of dysgenetic gonadal tissue and Y chromosome material, there is a high risk of the development of a
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testing. Many patients are diagnosed prenatally due to fetal factors (increased nuchal fold, or abnormal levels of
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of Y chromosome segments. Such rearrangements of the Y chromosome can lead to partial expression of the
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Donahoe PK, Crawford JD, Hendren WH (1979). "Mixed gonadal dysgenesis, pathogenesis, and management".
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In a normal situation, all the cells in an individual will have 46 chromosomes, with one being an
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cannot predict any phenotypic outcomes, often making prenatal genetic counselling difficult.
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Hsu LY (January 1989). "Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update".
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The age of diagnosis varies depending on manifestations of disease prompting reason for
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Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, et al. (2016).
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levels have been described in both male and female patients, as well as low levels of
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is commonly associated with short stature. Psychomotor development is normal.
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or with two Xs. However, sometimes during the early copying processes of
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The clinical manifestations are highly variable, ranging from partial
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however, it was determined that the proportion of 45,X cells in the
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Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002).
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may be ambiguous, male or female, regardless of the extent of the
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which may lead to abnormal genitals and testosterone levels.
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As the gonads may not be symmetrical, the development of the
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and heights considerably below their genetic potential. High
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45,X/46,XY mosaicism can be detected prenatally through
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Johansen, Marie Lindhart; et al. (1 August 2012).
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The Journal of Clinical Endocrinology & Metabolism
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Conditions can be distinguished histologically and by
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at birth, to patients with completely male or female
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The 2101: 2030:46,XX testicular disorders of sex development 1276: 898: 771:Vol. 104 No. 2 August 1, 1999. pp. 304 -308 8: 482: 480: 354: 352: 350: 2677:Timeline of reproductive rights legislation 2662:Birth control movement in the United States 1852:Acute myeloblastic leukemia with maturation 2515:Reproductive endocrinology and infertility 2108: 2094: 2086: 1757: 1744: 1616: 1304: 1283: 1269: 1261: 1172: 1036: 936: 905: 891: 883: 783: 64: 29: 676: 632: 545: 504: 460: 411: 758:45,X/46,XY Mosaicism: Report of 27 Cases 654: 652: 346: 1140:Congenital absence of the vas deferens 567: 565: 389: 387: 385: 383: 7: 1965:Desmoplastic small-round-cell tumor 700:45,X/46,XY mixed gonadal dysgenesis 147:. The observable characteristics ( 1156:Persistent MĂĽllerian duct syndrome 621:American Journal of Human Genetics 493:American Journal of Human Genetics 25: 2371:self-report sexual risk behaviors 547:10.1097/01.MP.0000027623.23885.0D 183:in male patients. Dosage loss of 2441:Precocious puberty and pregnancy 1538:22q11.2 distal deletion syndrome 615:Chang, H J; et al. (1990). 282: 2561:Sexually transmitted infections 1937:Dermatofibrosarcoma protuberans 1880:Acute megakaryoblastic leukemia 1808:Anaplastic large-cell lymphoma 1470:Chromosome 5q deletion syndrome 2117:Sexual and reproductive health 1236:Progestin-induced virilization 1: 1660:Klinefelter syndrome (47,XXY) 1425:1q21.1 copy number variations 737:10.1016/S0022-3468(79)80486-8 245:Identification of 45,X/46,XY 123:. Most individuals with this 2541:Disorders of sex development 1866:Acute promyelocytic leukemia 1822:Acute lymphoblastic leukemia 1514:17q12 microdeletion syndrome 1389:22q11.2 duplication syndrome 1367:16p11.2 duplication syndrome 2749:Sex chromosome aneuploidies 2551:Reproductive system disease 1433:1q21.1 duplication syndrome 1320:1q21.1 duplication syndrome 1087:Unilateral ovarian agenesis 2770: 2510:Obstetrics and gynaecology 1064:Sertoli cell-only syndrome 52:Obstetrics and gynaecology 2426:Pregnant patients' rights 2191:Pre-conception counseling 2148:Abortion-rights movements 1979:Alveolar rhabdomyosarcoma 1714:XYYYY syndrome (49,XYYYY) 1680:XXXXY syndrome (49,XXXXY) 1675:XXXYY syndrome (49,XXXYY) 1215:Penoscrotal transposition 2312:Gamete Cryopreservation 2158:Circumcision controversy 2138:Compulsory sterilization 1454:Wolf–Hirschhorn syndrome 1429:1q21.1 deletion syndrome 1292:Chromosome abnormalities 1113:Mixed gonadal dysgenesis 320:Sex chromosome anomalies 87:mixed gonadal dysgenesis 18:Mixed gonadal dysgenesis 2672:Social hygiene movement 2525:Transgender health care 1838:Philadelphia chromosome 1709:XYYY syndrome (48,XYYY) 1670:XXXY syndrome (48,XXXY) 1665:XXYY syndrome (48,XXYY) 1550:22q13 deletion syndrome 1325:2q31.1 microduplication 678:10.14310/horm.2002.1384 161:phenotypical expression 127:have apparently normal 2500:Genitourinary medicine 2303:In vitro fertilization 2258:Hormonal contraception 2143:Contraceptive security 1697:Pentasomy X (49,XXXXX) 1629:Turner syndrome (45,X) 1510:Smith–Magenis syndrome 1506:Miller–Dieker syndrome 1441:1p36 deletion syndrome 1108:Ovotesticular syndrome 291:This section is empty. 131:, and a minority have 104:. It is a fairly rare 2163:Intersex human rights 1704:XYY syndrome (47,XYY) 1692:Tetrasomy X (48,XXXX) 1575:Prader–Willi syndrome 1241:Pseudohermaphroditism 1118:XY gonadal dysgenesis 1082:XX gonadal dysgenesis 586:10.1002/pd.1970090106 2721:tax on childlessness 2477:Genital modification 2401:Unintended pregnancy 2133:Reproductive Justice 1796:Mantle cell lymphoma 1466:Cri du chat syndrome 1246:True hermaphroditism 941:Uterine malformation 413:10.1210/jc.2012-1388 106:chromosomal disorder 33:45,X/46,XY mosaicism 2754:Intersex variations 2421:Pregnancy from rape 2278:Intrauterine device 1782:Follicular lymphoma 2667:History of condoms 2556:Sexual dysfunction 2462:Sexual orientation 2416:Options counseling 2263:Male contraception 2186:Genetic counseling 2021:Uniparental disomy 2016:Fragile X syndrome 1951:Myxoid liposarcoma 1803:t(11 CCND1:14 IGH) 1687:Trisomy X (47,XXX) 1565:genomic imprinting 1345:Distal trisomy 10q 1002:Vaginal hypoplasia 959:Unicornuate uterus 949:MĂĽllerian agenesis 857:External resources 763:2019-12-16 at the 705:2017-04-17 at the 406:(8): E1540–E1549. 325:Gonadal dysgenesis 153:gonadal dysgenesis 139:Signs and symptoms 2736: 2735: 2436:Teenage pregnancy 2153:Genital integrity 2083: 2082: 2035:Marker chromosome 2004: 2003: 1897: 1896: 1734: 1733: 1601: 1600: 1571:Angelman syndrome 1526:DiGeorge syndrome 1494:Jacobsen syndrome 1482:Williams syndrome 1258: 1257: 1254: 1253: 1164: 1163: 1126: 1125: 1017:Cloacal exstrophy 1007:Imperforate hymen 969:Bicornuate uterus 954:Cervical agenesis 880: 879: 665:Hormones (Athens) 330:Mosaic (genetics) 311: 310: 73: 72: 27:Medical condition 16:(Redirected from 2761: 2698:Two-child policy 2693:One-child policy 2573:Gender dysphoria 2110: 2103: 2096: 2087: 2026:XX male syndrome 1923:Synovial sarcoma 1800:Multiple myeloma 1768:Burkitt lymphoma 1758: 1745: 1648:other karyotypes 1617: 1399:Cat-eye syndrome 1305: 1285: 1278: 1271: 1262: 1173: 1103:Gonadal agenesis 1037: 1012:Vaginal adenosis 964:Uterus didelphys 937: 907: 900: 893: 884: 784: 772: 755: 749: 748: 725:J. Pediatr. Surg 720: 714: 697: 691: 690: 680: 656: 647: 646: 636: 612: 606: 605: 569: 560: 559: 549: 525: 519: 518: 508: 484: 475: 474: 464: 432: 426: 425: 415: 391: 378: 377: 375: 373: 364: 356: 306: 303: 293:You can help by 286: 279: 133:female genitalia 81:, also known as 69: 68: 60:medical genetics 30: 21: 2769: 2768: 2764: 2763: 2762: 2760: 2759: 2758: 2739: 2738: 2737: 2732: 2681: 2650: 2623:United Kingdom 2577: 2529: 2520:Sexual medicine 2481: 2457:Gender identity 2445: 2391:Maternal health 2377: 2337: 2333:fertility fraud 2294: 2287: 2244: 2195: 2169: 2119: 2114: 2084: 2079: 2040:Ring chromosome 2000: 1893: 1826: 1730: 1646: 1633: 1597: 1410: 1309: 1294: 1289: 1259: 1250: 1219: 1160: 1144: 1122: 1091: 1068: 1026: 1022:Vaginal atresia 983: 928: 911: 881: 876: 875: 852: 851: 795: 781: 776: 775: 765:Wayback Machine 756: 752: 722: 721: 717: 707:Wayback Machine 698: 694: 658: 657: 650: 614: 613: 609: 571: 570: 563: 527: 526: 522: 486: 485: 478: 453:10.1038/ng.3545 434: 433: 429: 393: 392: 381: 371: 369: 362: 358: 357: 348: 343: 335:Turner syndrome 316: 307: 301: 298: 277: 243: 220:DNA replication 208: 141: 83:X0/XY mosaicism 63: 41:45,X0/46,XY MGD 28: 23: 22: 15: 12: 11: 5: 2767: 2765: 2757: 2756: 2751: 2741: 2740: 2734: 2733: 2731: 2730: 2725: 2724: 2723: 2718: 2713: 2708: 2700: 2695: 2689: 2687: 2683: 2682: 2680: 2679: 2674: 2669: 2664: 2658: 2656: 2652: 2651: 2649: 2648: 2647: 2646: 2641: 2639:teen pregnancy 2631: 2630: 2629: 2621: 2616: 2611: 2606: 2601: 2596: 2591: 2585: 2583: 2579: 2578: 2576: 2575: 2570: 2569: 2568: 2558: 2553: 2548: 2543: 2537: 2535: 2531: 2530: 2528: 2527: 2522: 2517: 2512: 2507: 2502: 2497: 2491: 2489: 2483: 2482: 2480: 2479: 2474: 2469: 2464: 2459: 2453: 2451: 2447: 2446: 2444: 2443: 2438: 2433: 2428: 2423: 2418: 2413: 2408: 2403: 2398: 2393: 2387: 2385: 2379: 2378: 2376: 2375: 2374: 2373: 2365: 2364: 2363: 2353: 2347: 2345: 2339: 2338: 2336: 2335: 2330: 2325: 2324: 2323: 2318: 2310: 2305: 2299: 2297: 2289: 2288: 2286: 2285: 2280: 2275: 2270: 2265: 2260: 2254: 2252: 2246: 2245: 2243: 2242: 2237: 2236: 2235: 2230: 2220: 2215: 2205: 2203: 2197: 2196: 2194: 2193: 2188: 2183: 2177: 2175: 2171: 2170: 2168: 2167: 2166: 2165: 2160: 2150: 2145: 2140: 2135: 2129: 2127: 2121: 2120: 2115: 2113: 2112: 2105: 2098: 2090: 2081: 2080: 2078: 2077: 2076: 2075: 2037: 2032: 2023: 2018: 2012: 2010: 2006: 2005: 2002: 2001: 1999: 1998: 1976: 1962: 1948: 1934: 1920: 1905: 1903: 1899: 1898: 1895: 1894: 1892: 1891: 1877: 1863: 1849: 1834: 1832: 1828: 1827: 1825: 1824: 1819: 1805: 1793: 1779: 1764: 1762: 1755: 1742: 1740:Translocations 1736: 1735: 1732: 1731: 1729: 1728: 1723: 1717: 1716: 1711: 1706: 1700: 1699: 1694: 1689: 1683: 1682: 1677: 1672: 1667: 1662: 1656: 1654: 1635: 1634: 1632: 1631: 1625: 1623: 1614: 1603: 1602: 1599: 1598: 1596: 1595: 1585: 1584: 1583: 1582: 1560: 1559: 1558: 1557: 1547: 1546: 1545: 1535: 1534: 1533: 1523: 1522: 1521: 1503: 1502: 1501: 1491: 1490: 1489: 1479: 1478: 1477: 1463: 1462: 1461: 1451: 1450: 1449: 1420: 1418: 1412: 1411: 1409: 1408: 1407: 1406: 1396: 1391: 1386: 1385: 1384: 1374: 1369: 1364: 1359: 1358: 1357: 1350:Patau syndrome 1347: 1342: 1337: 1332: 1327: 1322: 1316: 1314: 1302: 1296: 1295: 1290: 1288: 1287: 1280: 1273: 1265: 1256: 1255: 1252: 1251: 1249: 1248: 1243: 1238: 1233: 1227: 1225: 1221: 1220: 1218: 1217: 1212: 1207: 1202: 1197: 1192: 1187: 1181: 1179: 1170: 1166: 1165: 1162: 1161: 1159: 1158: 1152: 1150: 1146: 1145: 1143: 1142: 1136: 1134: 1128: 1127: 1124: 1123: 1121: 1120: 1115: 1110: 1105: 1099: 1097: 1093: 1092: 1090: 1089: 1084: 1078: 1076: 1070: 1069: 1067: 1066: 1061: 1056: 1051: 1049:Cryptorchidism 1045: 1043: 1034: 1028: 1027: 1025: 1024: 1019: 1014: 1009: 1004: 999: 997:Vaginal septum 993: 991: 985: 984: 982: 981: 979:Arcuate uterus 976: 974:Uterine septum 971: 966: 961: 956: 951: 945: 943: 934: 930: 929: 912: 910: 909: 902: 895: 887: 878: 877: 874: 873: 861: 860: 858: 854: 853: 850: 849: 838: 827: 812: 796: 791: 790: 788: 787:Classification 780: 779:External links 777: 774: 773: 750: 731:(3): 287–300. 715: 713:; August 2015. 692: 648: 627:(1): 156–167. 607: 561: 540:(10): 1013–9. 520: 499:(1): 156–167. 476: 427: 379: 367:rarechromo.org 345: 344: 342: 339: 338: 337: 332: 327: 322: 315: 312: 309: 308: 289: 287: 276: 273: 269:amniotic fluid 242: 239: 231:translocations 207: 204: 200:gonadoblastoma 192:MĂĽllerian duct 140: 137: 129:male genitalia 115:and ambiguous 91:sex chromosome 71: 70: 49: 43: 42: 39: 35: 34: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 2766: 2755: 2752: 2750: 2747: 2746: 2744: 2729: 2726: 2722: 2719: 2717: 2716:child benefit 2714: 2712: 2709: 2707: 2704: 2703: 2701: 2699: 2696: 2694: 2691: 2690: 2688: 2684: 2678: 2675: 2673: 2670: 2668: 2665: 2663: 2660: 2659: 2657: 2653: 2645: 2644:birth control 2642: 2640: 2637: 2636: 2635: 2634:United States 2632: 2628: 2625: 2624: 2622: 2620: 2617: 2615: 2612: 2610: 2607: 2605: 2602: 2600: 2597: 2595: 2592: 2590: 2587: 2586: 2584: 2580: 2574: 2571: 2567: 2564: 2563: 2562: 2559: 2557: 2554: 2552: 2549: 2547: 2544: 2542: 2539: 2538: 2536: 2532: 2526: 2523: 2521: 2518: 2516: 2513: 2511: 2508: 2506: 2503: 2501: 2498: 2496: 2493: 2492: 2490: 2488: 2484: 2478: 2475: 2473: 2470: 2468: 2465: 2463: 2460: 2458: 2455: 2454: 2452: 2448: 2442: 2439: 2437: 2434: 2432: 2431:Prenatal care 2429: 2427: 2424: 2422: 2419: 2417: 2414: 2412: 2409: 2407: 2404: 2402: 2399: 2397: 2394: 2392: 2389: 2388: 2386: 2384: 2380: 2372: 2369: 2368: 2366: 2362: 2359: 2358: 2357: 2354: 2352: 2349: 2348: 2346: 2344: 2340: 2334: 2331: 2329: 2326: 2322: 2319: 2317: 2314: 2313: 2311: 2309: 2306: 2304: 2301: 2300: 2298: 2296: 2290: 2284: 2283:Sterilization 2281: 2279: 2276: 2274: 2271: 2269: 2266: 2264: 2261: 2259: 2256: 2255: 2253: 2251: 2250:Contraception 2247: 2241: 2238: 2234: 2231: 2229: 2226: 2225: 2224: 2221: 2219: 2218:Birth spacing 2216: 2214: 2213:childlessness 2210: 2209:Childfreeness 2207: 2206: 2204: 2202: 2198: 2192: 2189: 2187: 2184: 2182: 2181:Sex education 2179: 2178: 2176: 2172: 2164: 2161: 2159: 2156: 2155: 2154: 2151: 2149: 2146: 2144: 2141: 2139: 2136: 2134: 2131: 2130: 2128: 2126: 2122: 2118: 2111: 2106: 2104: 2099: 2097: 2092: 2091: 2088: 2074: 2070: 2066: 2062: 2058: 2054: 2050: 2046: 2043: 2042: 2041: 2038: 2036: 2033: 2031: 2027: 2024: 2022: 2019: 2017: 2014: 2013: 2011: 2007: 1996: 1992: 1988: 1984: 1980: 1977: 1974: 1970: 1966: 1963: 1960: 1956: 1952: 1949: 1946: 1942: 1938: 1935: 1932: 1928: 1924: 1921: 1918: 1914: 1910: 1909:Ewing sarcoma 1907: 1906: 1904: 1900: 1889: 1885: 1881: 1878: 1875: 1871: 1867: 1864: 1861: 1857: 1853: 1850: 1847: 1843: 1839: 1836: 1835: 1833: 1829: 1823: 1820: 1817: 1813: 1809: 1806: 1804: 1801: 1797: 1794: 1791: 1787: 1783: 1780: 1777: 1773: 1769: 1766: 1765: 1763: 1759: 1756: 1754: 1750: 1746: 1743: 1741: 1737: 1727: 1724: 1722: 1719: 1718: 1715: 1712: 1710: 1707: 1705: 1702: 1701: 1698: 1695: 1693: 1690: 1688: 1685: 1684: 1681: 1678: 1676: 1673: 1671: 1668: 1666: 1663: 1661: 1658: 1657: 1655: 1653: 1649: 1644: 1640: 1636: 1630: 1627: 1626: 1624: 1622: 1618: 1615: 1612: 1608: 1604: 1594: 1593:Proximal 18q- 1590: 1587: 1586: 1580: 1576: 1572: 1569: 1568: 1567: 1566: 1562: 1561: 1556: 1553: 1552: 1551: 1548: 1544: 1541: 1540: 1539: 1536: 1532: 1529: 1528: 1527: 1524: 1520: 1517: 1516: 1515: 1511: 1507: 1504: 1500: 1497: 1496: 1495: 1492: 1488: 1485: 1484: 1483: 1480: 1476: 1473: 1472: 1471: 1467: 1464: 1460: 1457: 1456: 1455: 1452: 1448: 1445: 1444: 1442: 1438: 1434: 1430: 1426: 1422: 1421: 1419: 1417: 1413: 1405: 1402: 1401: 1400: 1397: 1395: 1392: 1390: 1387: 1383: 1380: 1379: 1378: 1377:Down syndrome 1375: 1373: 1370: 1368: 1365: 1363: 1360: 1356: 1353: 1352: 1351: 1348: 1346: 1343: 1341: 1338: 1336: 1333: 1331: 1328: 1326: 1323: 1321: 1318: 1317: 1315: 1313: 1308:Duplications, 1306: 1303: 1301: 1297: 1293: 1286: 1281: 1279: 1274: 1272: 1267: 1266: 1263: 1247: 1244: 1242: 1239: 1237: 1234: 1232: 1231:Clitoromegaly 1229: 1228: 1226: 1222: 1216: 1213: 1211: 1208: 1206: 1203: 1201: 1198: 1196: 1193: 1191: 1188: 1186: 1183: 1182: 1180: 1178: 1174: 1171: 1167: 1157: 1154: 1153: 1151: 1147: 1141: 1138: 1137: 1135: 1133: 1129: 1119: 1116: 1114: 1111: 1109: 1106: 1104: 1101: 1100: 1098: 1094: 1088: 1085: 1083: 1080: 1079: 1077: 1075: 1071: 1065: 1062: 1060: 1057: 1055: 1054:Polyorchidism 1052: 1050: 1047: 1046: 1044: 1042: 1038: 1035: 1033: 1029: 1023: 1020: 1018: 1015: 1013: 1010: 1008: 1005: 1003: 1000: 998: 995: 994: 992: 990: 986: 980: 977: 975: 972: 970: 967: 965: 962: 960: 957: 955: 952: 950: 947: 946: 944: 942: 938: 935: 931: 927: 923: 919: 915: 908: 903: 901: 896: 894: 889: 888: 885: 872: 868: 867: 863: 862: 859: 855: 848: 844: 843: 839: 837: 833: 832: 828: 826: 822: 821: 817: 813: 811: 807: 806: 802: 798: 797: 794: 789: 785: 778: 770: 766: 762: 759: 754: 751: 746: 742: 738: 734: 730: 726: 719: 716: 712: 708: 704: 701: 696: 693: 688: 684: 679: 674: 670: 666: 662: 655: 653: 649: 644: 640: 635: 630: 626: 622: 618: 611: 608: 603: 599: 595: 591: 587: 583: 579: 575: 574:Prenat. Diagn 568: 566: 562: 557: 553: 548: 543: 539: 535: 531: 524: 521: 516: 512: 507: 502: 498: 494: 490: 483: 481: 477: 472: 468: 463: 458: 454: 450: 446: 442: 438: 431: 428: 423: 419: 414: 409: 405: 401: 397: 390: 388: 386: 384: 380: 368: 361: 355: 353: 351: 347: 340: 336: 333: 331: 328: 326: 323: 321: 318: 317: 313: 305: 296: 292: 288: 285: 281: 280: 274: 272: 270: 266: 265:amniocentesis 261: 259: 255: 250: 248: 240: 238: 236: 232: 227: 225: 224:cell division 221: 217: 213: 205: 203: 201: 197: 196:Wolffian duct 193: 188: 186: 182: 178: 174: 168: 166: 162: 158: 155:in males, to 154: 150: 146: 138: 136: 134: 130: 126: 122: 118: 114: 109: 107: 103: 99: 95: 92: 88: 84: 80: 79: 67: 61: 57: 56:endocrinology 53: 50: 48: 44: 40: 36: 31: 19: 2728:Abortion law 2711:bachelor tax 2361:vulvovaginal 2295:reproduction 1720: 1563: 1437:TAR syndrome 1340:Tetrasomy 9p 1132:Vas deferens 1112: 864: 840: 829: 814: 799: 768: 753: 728: 724: 718: 710: 695: 671:(4): 501–4. 668: 664: 624: 620: 610: 580:(1): 31–48. 577: 573: 537: 533: 523: 496: 492: 447:(5): 563–8. 444: 440: 430: 403: 399: 370:. Retrieved 366: 299: 295:adding to it 290: 262: 251: 244: 228: 209: 189: 181:testosterone 177:gonadotropin 169: 142: 113:virilisation 110: 102:Y chromosome 86: 82: 75: 74: 2614:Philippines 2546:Infertility 2505:Gynaecology 2472:Transgender 2240:Sperm theft 2233:foster care 1726:46,XX/46,XY 1643:tetrasomies 1589:Distal 18q- 1185:Hypospadias 534:Mod. Pathol 302:August 2017 254:cytogenetic 157:Turner-like 145:karyotyping 76:45,X/46,XY 38:Other names 2743:Categories 2706:baby bonus 2702:Financial 2582:By country 2406:childbirth 2396:Obstetrics 2328:Sperm bank 1721:45,X/46,XY 1621:Monosomies 1394:Trisomy 22 1372:Trisomy 18 1362:Trisomy 16 1310:including 1200:Micropenis 1190:Epispadias 1059:Monorchism 842:DiseasesDB 769:Pediatrics 341:References 275:Management 214:and one a 94:aneuploidy 2619:Singapore 2534:Disorders 2495:Andrology 2383:Pregnancy 2367:Research 2223:Parenting 2174:Education 1639:Trisomies 1416:Deletions 1335:Trisomy 9 1330:Trisomy 8 1312:trisomies 1300:Autosomal 1210:Diphallia 441:Nat Genet 247:karyotype 241:Diagnosis 185:SHOX gene 173:histology 165:mosaicism 149:phenotype 125:karyotype 117:genitalia 98:mosaicism 78:mosaicism 47:Specialty 2609:Pakistan 2487:Medicine 2467:Intersex 2450:Identity 2411:Abortion 2293:Assisted 2268:Safe sex 2228:adoption 2201:Planning 1761:Lymphoid 1753:lymphoma 1749:Leukemia 1205:Aphallia 1169:External 1041:Testicle 933:Internal 922:intersex 866:Orphanet 761:Archived 711:Orfa.net 703:Archived 687:23422775 602:20193032 556:12379746 471:27064253 422:22605431 314:See also 235:SRY gene 2655:History 2604:Ireland 2356:Women's 1989:) t (1 1856:RUNX1T1 1831:Myeloid 1652:mosaics 1195:Chordee 836:D006060 643:2294747 634:1683543 594:2664755 515:2294747 506:1683543 462:4848121 372:15 July 100:of the 2686:Policy 2566:clinic 2343:Health 2273:Condom 2125:Rights 1941:COL1A1 1613:linked 1032:Gonads 989:Vagina 914:Female 745:480090 743:  685:  641:  631:  600:  592:  554:  513:  503:  469:  459:  420:  206:Causes 121:gonads 62:  2594:India 2589:China 2351:Men's 2321:Sperm 2009:Other 1995:FOXO1 1993:; 13 1987:FOXO1 1985:; 13 1971:; 22 1967:t(11 1957:; 16 1955:DDIT3 1953:t(12 1945:PDGFB 1939:t(17 1915:; 22 1911:t(11 1902:Other 1884:RBM15 1868:t(15 1860:RUNX1 1844:; 22 1784:t(14 1224:Other 1177:Penis 1149:Other 1096:Other 1074:Ovary 847:29266 825:758.6 810:Q96.3 598:S2CID 363:(PDF) 258:serum 2627:teen 2599:Iran 2308:ICSI 1991:PAX7 1983:PAX3 1981:t(2 1943:;22 1929:;18 1925:t(x 1913:FLI1 1888:MKL1 1886:;22 1882:t(1 1874:RARA 1872:,17 1858:;21 1854:t(8 1840:t(9 1816:NPM1 1810:t(2 1790:BCL2 1788:;18 1774:;14 1770:t(8 924:and 918:male 916:and 871:1772 831:MeSH 820:9-CM 741:PMID 683:PMID 639:PMID 590:PMID 552:PMID 511:PMID 467:PMID 418:PMID 374:2024 222:and 194:and 96:and 85:and 2316:Egg 1973:EWS 1969:WT1 1959:FUS 1931:SSX 1927:SYT 1917:EWS 1870:PML 1846:BCR 1842:ABL 1814:;5 1812:ALK 1786:IGH 1776:IGH 1772:MYC 926:DSD 816:ICD 801:ICD 733:doi 673:doi 629:PMC 582:doi 542:doi 501:PMC 457:PMC 449:doi 408:doi 297:. 2745:: 2073:22 2071:, 2069:21 2067:; 2065:20 2063:; 2061:18 2059:; 2057:15 2055:; 2053:14 2051:; 2047:; 1579:15 1555:22 1543:22 1531:22 1519:17 1499:11 1443:) 1404:22 1382:21 1355:13 869:: 845:: 834:: 823:: 808:: 805:10 767:. 739:. 729:14 727:. 709:. 681:. 669:11 667:. 663:. 651:^ 637:. 625:46 623:. 619:. 596:. 588:. 576:. 564:^ 550:. 538:15 536:. 532:. 509:. 497:46 495:. 491:. 479:^ 465:. 455:. 445:48 443:. 439:. 416:. 404:97 402:. 398:. 382:^ 365:. 349:^ 202:. 58:, 54:, 2211:/ 2109:e 2102:t 2095:v 2049:9 2045:6 2028:/ 1997:) 1975:) 1961:) 1947:) 1933:) 1919:) 1890:) 1876:) 1862:) 1848:) 1818:) 1798:/ 1792:) 1778:) 1751:/ 1650:/ 1645:, 1641:/ 1611:Y 1609:/ 1607:X 1591:/ 1581:) 1577:( 1573:/ 1512:/ 1508:/ 1487:7 1475:5 1468:/ 1459:4 1447:1 1439:/ 1435:/ 1431:/ 1427:/ 1423:( 1284:e 1277:t 1270:v 906:e 899:t 892:v 818:- 803:- 793:D 747:. 735:: 689:. 675:: 645:. 604:. 584:: 578:9 558:. 544:: 517:. 473:. 451:: 424:. 410:: 376:. 304:) 300:( 216:Y 212:X 20:)

Index

Mixed gonadal dysgenesis
Specialty
Obstetrics and gynaecology
endocrinology
medical genetics
Edit this on Wikidata
mosaicism
sex chromosome
aneuploidy
mosaicism
Y chromosome
chromosomal disorder
virilisation
genitalia
gonads
karyotype
male genitalia
female genitalia
karyotyping
phenotype
gonadal dysgenesis
Turner-like
phenotypical expression
mosaicism
histology
gonadotropin
testosterone
SHOX gene
MĂĽllerian duct
Wolffian duct

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