{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T15:35:27Z","timestamp":1764084927054,"version":"build-2065373602"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,5]]},"abstract":"<jats:p>An infertile male patient with a 45,X peripheral blood karyotype and a 45,X\/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal. Recombinant DNA studies using Y chromosome specific probes suggest that almost the entire long arm of the Y chromosome is deleted.<\/jats:p>","DOI":"10.1136\/jmg.26.5.330","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"330-333","source":"Crossref","is-referenced-by-count":12,"title":["Y chromosome specific probes identify breakpoint in a 45,X\/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male."],"prefix":"10.1136","volume":"26","author":[{"given":"G C","family":"Beverstock","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"MacFarlane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Veenema","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Hoekman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P J","family":"Goodfellow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,5,1]]},"reference":[{"key":"ref_1","first-page":"13","article-title":"Nakagome et a!2 (3) Surana et a!2 (4) Meisner and Inhorn2 1972 (5) Nielsen et a!2 (6) Neu et a2 (7) Telfer et a!2 (8) Langmaid and Laurence2 1974 (9) Yunis et a!2 (10) Podruch et aP6 (11) Kosztolanyi and Trixler2","volume":"7","author":"Lo; Kobernick2","year":"1983","unstructured":"Lo and Kobernick2 (2) Nakagome et a!2 (3) Surana et a!2 (4) Meisner and Inhorn2 1972 (5) Nielsen et a!2 (6) Neu et a2 (7) Telfer et a!2 (8) Langmaid and Laurence2 1974 (9) Yunis et a!2 (10) Podruch et aP6 (11) Kosztolanyi and Trixler2 1983 (12) Disteche et a!7 (13) Fitch et all","journal-title":"et; Disteche"},{"article-title":"Munke et aP9","author":"a","key":"ref_2","unstructured":"Munke et aP9 (a)"},{"article-title":"Munke et al9","author":"b","key":"ref_3","unstructured":"Munke et al9 (b)"},{"key":"ref_4","unstructured":"Martin et allo","article-title":"Martin et allo"},{"key":"ref_5","unstructured":"Chandley et al11 (17) Gaba et al12 (18) Beverstock et al NS=not done or not stated.","article-title":"Chandley et al11 (17) Gaba et al12 (18) Beverstock et al NS=not done or not stated"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/BF00291764","article-title":"A synopsis of the human Y chromosome","volume":"55","author":"Buhler, E.M.","year":"1980","unstructured":"Buhler EM. 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