{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T00:01:39Z","timestamp":1773792099771,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T00:00:00Z","timestamp":1208217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Male individuals with a 46,XX karyotype have been designated as XX males. In 80% of the cases, the presence of Yp sequences, including the male sex\u2010determining gene, <jats:italic>SRY<\/jats:italic>, has been demonstrated by molecular and\/or fluorescence in situ hybridization (FISH) analyses. In most cases, Yp sequences are located on the short arm of the X chromosome, resulting from unequal recombination between Yp and Xp during paternal meiosis. Much less frequent in XX males is the localization of the <jats:italic>SRY<\/jats:italic> gene to an autosome. Here we report on the genetic investigation of an atypical XX male in which the <jats:italic>SRY<\/jats:italic> gene was located at the end of the long arm of chromosome 1. The patient, with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Molecular\u2010cytogenetics (FISH) and molecular (PCR and MLPA) studies identified not only Yp\u2010specific sequences located on the distal long arm of chromosome 1 but also the deletion of the subtelomeric 1qter region. A specific phenotype has been reported for a deletion of the 1qter region associated with mental retardation. The molecular investigation of the 1qter region showed that in our patient the microdeletion is more telomeric than in patients reported with mental retardation. To our knowledge, this is the first report of a XX male with the Yp region transferred to the terminal long arm of chromosome 1. This is also the first microdeletion of the subtelomeric 1qter region not associated with mental retardation. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32284","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T16:59:19Z","timestamp":1208278759000},"page":"1335-1340","source":"Crossref","is-referenced-by-count":27,"title":["Atypical XX male with the <i>SRY<\/i> gene located at the long arm of chromosome 1 and a 1qter microdeletion"],"prefix":"10.1002","volume":"146A","author":[{"given":"Rosa","family":"Queralt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Madrigal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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