title: A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.
abstract: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.
authors.affiliation: Greencross Reference Laboratory, Seoul, Korea.
authors.forename: Eun-Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: Sook-Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Jin-Kyung
authors.initials: JK
authors.lastname: Kim
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D056426:Genetic Loci; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D016615:Telomere / Q000235:genetics; D017624:WAGR Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D013006:Growth Hormone
keywords: Chondrodysplasia Punctata; Deletion Xp22 pter; Ichthyosis; Kallmann Syndrome; Leri-Weill Dyschondrosteosis; Mental Retardation; Ocular Albinism