{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T18:58:52Z","timestamp":1773341932352,"version":"3.50.1"},"reference-count":10,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X\/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variability is observed with mosaicism for 45,X and a second cell line with an abnormal sex chromosome. This report describes a patient with Turner syndrome and a patient with mixed gonadal dysgenesis who have identical karyotypes, namely 45,X\/46,X,idic(Y)(p11.2). While mosaicism alone might have accounted for the phenotypic differences, by PCR analysis the Turner syndrome patient was SRY and ZFY negative and the mixed gonadal dysgenesis patient was SRY and ZFY positive.<\/jats:p>","DOI":"10.1136\/jmg.35.10.862","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"862-864","source":"Crossref","is-referenced-by-count":28,"title":["Discordant phenotypes and 45,X\/46,X,idic(Y)."],"prefix":"10.1136","volume":"35","author":[{"given":"T E","family":"Kelly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J B","family":"Franko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Rogol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W L","family":"Golden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","first-page":"1231","article-title":"Molecular analysis of recombination in a family with a large pericentric X-chromosome inversion","volume":"58","author":"Shashi, V.; Golden, W.L.; Allinson, P.S.; Kelly, T.E.","year":"1996","unstructured":"Shashi V, Golden WL, Allinson PS, Kelly TE. Molecular analysis of recombination in a family with a large pericentric X-chromosome inversion. Am J Hum Genet 1996;58: 1231-8.","journal-title":"Am J Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ajmg.1320550418","article-title":"Detection of Y chromosome sequences in a 45, X\/46, XXqpatient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH)","volume":"55","author":"Kocova, M.; Siegel, S.F.; Wenger, S.L.; Lee, P.A.; Nalesnik, M.; Trucco, M.","year":"1995","unstructured":"Kocova M, Siegel SF, Wenger SL, Lee PA, Nalesnik M, Trucco M. Detection of Y chromosome sequences in a 45,X\/46,XXqpatient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH). 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Am J Med Genet 1993;46:263-7.","journal-title":"Am J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ajmg.1320530204","article-title":"Phenotype\/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases","volume":"53","author":"Hsu, L.Y.","year":"1994","unstructured":"Hsu LY. Phenotype\/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J7 Med Genet 1994;53: 108-40.","journal-title":"Am J7 Med Genet"},{"key":"ref_7","first-page":"1400","article-title":"Gonadoblastoma: molecular definition of a susceptibility region on the Y chromosome","volume":"57","author":"Tsuchiya, K.; Reijo, R.; Page, D.C.; Disteche, C.M.","year":"1995","unstructured":"Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of a susceptibility region on the Y chromosome. Am _7 Hum Genet 1995;57: 1400-7.","journal-title":"Am _7 Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1136\/jmg.29.8.542","article-title":"Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies","volume":"29","author":"Petrovic, V.; Nasioulas, S.; Chow, C.W.; Voullaire, L.; Schmidt, M.; Dahl, H.","year":"1992","unstructured":"Petrovic V, Nasioulas S, Chow CW, Voullaire L, Schmidt M, Dahl H. Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. 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Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 1993;43:142-5.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.10.862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:54:17Z","timestamp":1760770457000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.10.862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1998,10,1]]},"published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1136\/jmg.35.10.862"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.10.862","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}