Document Detail


A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.
MedLine Citation:
PMID:  23091330     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Eun-Hae Cho; Sook-Young Kim; Jin-Kyung Kim
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-10-02
Journal Detail:
Title:  Journal of Korean medical science     Volume:  27     ISSN:  1598-6357     ISO Abbreviation:  J. Korean Med. Sci.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-23     Completed Date:  2013-05-09     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  8703518     Medline TA:  J Korean Med Sci     Country:  Korea (South)    
Other Details:
Languages:  eng     Pagination:  1273-7     Citation Subset:  IM    
Affiliation:
Greencross Reference Laboratory, Seoul, Korea.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adolescent
Child
Chromosome Deletion
Chromosomes, Human, X*
Eye Proteins / genetics
Female
Genetic Loci
Growth Hormone / therapeutic use
Humans
Male
Membrane Glycoproteins / genetics
Telomere / genetics
WAGR Syndrome / diagnosis*,  genetics,  therapy
Chemical
Reg. No./Substance:
0/Eye Proteins; 0/GPR143 protein, human; 0/Membrane Glycoproteins; 9002-72-6/Growth Hormone
Comments/Corrections

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