{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:32:50Z","timestamp":1758123170093},"reference-count":44,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T00:00:00Z","timestamp":1027555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.376","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:53:08Z","timestamp":1033905188000},"page":"675-680","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of a 45,X male with a SRY\u2010bearing chromosome 21"],"prefix":"10.1002","volume":"22","author":[{"given":"V.","family":"Nataf","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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