{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T10:28:26Z","timestamp":1769855306985,"version":"3.49.0"},"reference-count":25,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,12]]},"abstract":"<jats:p>We present a study of a mentally retarded and mildly dysmorphic female in whom initial cytogenetic studies identified the karyotype 46,X, + mar. Further characterisation of the structurally abnormal chromosome by fluorescence in situ hybridisation (FISH) showed that it is composed of both X and Y chromosome material with a centromere originating from the Y chromosome. The presence of the DMD gene and the absence of the XIST gene was shown by FISH using locus specific probes. The Y segment included the SRY and ZFY genes. Based on these findings, the karyotype was defined as 46, X,der(Y)t(X;Y) (p21.1;q11). This case illustrates male to female sex reversal owing to a partial duplication of the short arm of the X chromosome in the presence of SRY.<\/jats:p>","DOI":"10.1136\/jmg.32.12.987","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"987-990","source":"Crossref","is-referenced-by-count":12,"title":["Partial disomy of Xp and the presence of SRY in a phenotypic female."],"prefix":"10.1136","volume":"32","author":[{"given":"S","family":"Bajalica","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Blennow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"T\u015fezou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Galla-Voumvouraki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Alevizaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Sinaniotis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Kitsiou-Tzeli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF01888928","article-title":"Probable inverted tandem duplication of Xp in a 46, Xp + Y boy","volume":"24","author":"Narahara, K.; Kodama, Y.; Kimura, S.; Kimoto, H.","year":"1979","unstructured":"Narahara K, Kodama Y, Kimura S, Kimoto H. Probable inverted tandem duplication of Xp in a 46,Xp + Y boy. Jpn jHun, Genet 1979;24:105-10.","journal-title":"Jpn jHun, Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/jmg.17.4.291","article-title":"Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings","volume":"17","author":"Bernstein, R.; Jenkins, T.; Dawson, B.","year":"1980","unstructured":"Bernstein R, Jenkins T, Dawson B, et al. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. JfMed Genet 1980;17:291-300.","journal-title":"JfMed Genet"},{"key":"ref_3","first-page":"222","article-title":"Inherited partial X chromosome duplication in a mentally retarded male..7 Med","volume":"19","author":"Nielsen, K.B.; Langkjaer, F.","year":"1982","unstructured":"Nielsen KB, Langkjaer F. Inherited partial X chromosome duplication in a mentally retarded male..7 Med Genet 1982;19:222-4.","journal-title":"Genet"},{"key":"ref_4","first-page":"5","article-title":"A chromosomal survey of an institution for the mentally retarded: study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies","volume":"30","author":"Nielsen, K.B.; Dyggve, H.V.; Knudsen, H.; Olsen, J.","year":"1983","unstructured":"Nielsen KB, Dyggve HV, Knudsen H, Olsen J. A chromosomal survey of an institution for the mentally retarded: study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies. 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A deletion map of the human Yqll region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Getnomics 1991; 11:443-51.","journal-title":"Getnomics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.12.987","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:56:42Z","timestamp":1760738202000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.12.987"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,12]]},"references-count":25,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1995,12,1]]},"published-print":{"date-parts":[[1995,12]]}},"alternative-id":["10.1136\/jmg.32.12.987"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.12.987","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,12]]}}}