| A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome. | |
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MedLine Citation:
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PMID: 23091330 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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Eun-Hae Cho; Sook-Young Kim; Jin-Kyung Kim |
Publication Detail:
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Type: Journal Article Date: 2012-10-02 |
Journal Detail:
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Title: Journal of Korean medical science Volume: 27 ISSN: 1598-6357 ISO Abbreviation: J. Korean Med. Sci. Publication Date: 2012 Oct |
Date Detail:
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Created Date: 2012-10-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8703518 Medline TA: J Korean Med Sci Country: Korea (South) |
Other Details:
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Languages: eng Pagination: 1273-7 Citation Subset: IM |
Affiliation:
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Greencross Reference Laboratory, Seoul, Korea. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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