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Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.
MedLine Citation:
PMID:  21465155     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. This case supports the opinion that supernumerary inv dup(22)(q11.1) could play a role in male infertility. We suggest that the breakpoint in the region 22q11.1 and/or fourfold dosage of centromeric/pericentromeric sequences of the chromosome 22 may be the cause of hypogonadotropic hypogonadism resulting in impaired spermatogenesis and infertility in our patient.
Authors:
Ruth Mikelsaar; Jelena Lissitsina; Oliver Bartsch
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-5
Journal Detail:
Title:  Journal of applied genetics     Volume:  -     ISSN:  2190-3883     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9514582     Medline TA:  J Appl Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia, ruth.mikelsaar@ut.ee.
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