{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:44:39Z","timestamp":1764171879151},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T00:00:00Z","timestamp":1165881600000},"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":[[2007,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Males with deletions of or within Xp22.3\u2010pter display variable contiguous gene syndromes including manifestations of L\u00e9ri\u2010Weill syndrome, chondrodysplasia punctata, mental retardation, ichthyosis, Kallmann syndrome, and ocular albinism. Herein, we report on a male infant with a large, cytogenetically visible, terminal Xp deletion defined by extensive FISH and STS marker analysis to encompass 9.6 Mb, and findings of all of the disorders mentioned above. His deletion approximates the largest Xp terminal deletion ever reported in a male individual. Since the extent of terminal Xp deletions viable in males is limited by the position of male lethal genes in Xp22.2 at about 10\u201311 Mb from the telomere, this patient falls into the category of the most severe male terminal Xp deletion phenotype. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31451","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T03:17:31Z","timestamp":1165979851000},"page":"135-141","source":"Crossref","is-referenced-by-count":18,"title":["A male infant with a 9.6 Mb terminal Xp deletion including the <i>OA1<\/i> locus: Limit of viability of Xp deletions in males"],"prefix":"10.1002","volume":"143A","author":[{"given":"Volker 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