{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:49:31Z","timestamp":1791067771361,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,12]],"date-time":"2004-10-12T00:00:00Z","timestamp":1097539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministerium of Science and Culture of Saxony, Germany (to K.\u00d5.)","award":["SMWK 7531.50-04-0370-02\/12"],"award-info":[{"award-number":["SMWK 7531.50-04-0370-02\/12"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of <jats:italic>DMRT1<\/jats:italic> and\/or <jats:italic>DMRT2<\/jats:italic> (the genes for doublesex and mab\u20103 related transcription factor 1 and 2) being the sex determining genes(s) at 9p has been raised. <jats:italic>DMRT1<\/jats:italic> and <jats:italic>DMRT2<\/jats:italic> map near the 9p telomere, distal of marker D9S1779. We describe here three unrelated females with distal 9p monosomy, one with XY complement and two with XX complements. In each individual, fluorescent in situ hybridization predicted the loss of the <jats:italic>DMRT<\/jats:italic> genes. Patient 1, an XY individual with monosomy 9pter\u2009\u2192\u2009p24.1\u2009\u223c\u200924.2 and trisomy 7q32\u2009\u2192\u2009qter had normal female external genitalia, a blind ending vagina, no uterus, a Fallopian tube on the right, and bilateral ovotestes with primitive ovarian tissue. She also had extreme growth retardation. Around 80 cases of distal 9p monosomy have been reported previously, but there has been no report of ovotestes or gonads comprising ovarian tissue in a XY patient with 9p deletion. Findings in Patient 1 suggest that the phenotypic spectrum of the heterozygous DMRT deletion may include true hermaphroditism. Patients 2 and 3 were 12\u2010 and 14\u2010year\u2010old females with XX complements, normal external genitalia, and normal pubertal development. Patient 2 had pure monosomy 9pter\u2009\u2192\u2009p23 and Patient 3 had monosomy 9pter\u2009\u2192\u2009p22.3\u2009\u223c\u200923 combined with trisomy 3pter\u2009\u2192\u2009p23\u2009\u223c\u200924. To date, detailed reports on the gonadal status of XX 9p\u2010females have been limited to prepubertal girls. Patients 2 and 3 are the first females reported to have distal 9p monosomy and a normal puberty. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30269","type":"journal-article","created":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T07:00:52Z","timestamp":1097650852000},"page":"415-423","source":"Crossref","is-referenced-by-count":62,"title":["Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development"],"prefix":"10.1002","volume":"130A","author":[{"given":"K.","family":"\u00d5unap","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Uibo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Zordania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Kiho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ilus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"\u00d5iglane\u2010Shlik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-497"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370218"},{"key":"e_1_2_5_4_1","first-page":"A107","article-title":"Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q","volume":"57","author":"Begleiter ML","year":"1995","journal-title":"Am J Hum Genet Suppl"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.6.518"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90601-A"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302606"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04054.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302016"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/372525a0"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302017"},{"key":"e_1_2_5_12_1","first-page":"A78","article-title":"Possible location of a recessive testis forming gene on 9p24","volume":"45","author":"Hoo JJ","year":"1989","journal-title":"Am J Hum Genet Suppl"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.741"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90211-9"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<321::AID-AJMG17>3.0.CO;2-L"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00010"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.9.3094"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/6769"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.4.331"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1450613"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6120"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051052"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/35618"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.6.989"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.834100"},{"key":"e_1_2_5_26_1","first-page":"309","volume-title":"Clinical genetics handbook","author":"Robinson A","year":"1993"},{"key":"e_1_2_5_27_1","first-page":"129","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200431"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"e_1_2_5_30_1","first-page":"85","article-title":"Partial distal trisomy 3p. 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