{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T02:40:22Z","timestamp":1699843222851},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8402,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 33\u2010year\u2010old man had azoospermia and tubular atrophy as in the Klinefelter syndrome but short stature. He had a 46,X,t(X\/Y) (Xqter\u2192p22.3::Yp11\u2192Yqter) translocation and was H\u2010Y antigen\u2010positive. This excludes one of the genes controlling H\u2010Y antigen from the terminal portion of the short arm of the Y chromosome. This case and the two similar ones in the literature indicate that the proximal Yp portion is required for the differentiation of a male gonad. The pattern of X inactivation was random in the patient's fibroblasts, whereas in the lymphocytes the translocated chromosome was preferentially inactivated; comparison with other cases shows that the quantity of Y chromosome material involved in these translocations does <jats:italic>not<\/jats:italic> influence the X inactivation patterns. In the three cases with this dicentric translocation the X chromosome centromere is consistently the active one. Our case indicates that the choice of which centromere is inactivated is independent of the replication pattern of the X chromosome. Our patient and a few other relevant cases from the literature confirm that factors controlling height are located on the distal portion of Xp and of Yp.<\/jats:p>","DOI":"10.1002\/ajmg.1320120207","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:42:26Z","timestamp":1118515346000},"page":"175-184","source":"Crossref","is-referenced-by-count":30,"title":["The role of Yp in sex determination: New evidence from X\/Y translocations"],"prefix":"10.1002","volume":"12","author":[{"given":"Orsetta","family":"Zuffardi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Maraschio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Lo 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