Document Detail

Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient.
MedLine Citation:
PMID:  9253490     Owner:  NLM     Status:  MEDLINE    
Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homozygous deletion of exons 45-47 within the dystrophin gene on both X-chromosomes. The same deletion was found on one of the X-chromosomes in the patient's mother. It can be deduced therefore that Klinefelter's syndrome in this patient is most likely due to a non-disjunctional error which occurred either during the second maternal meiotic division or during early postzygotic mitotic divisions.
O Zeitoun; U P Ketelsen; G Wolff; C R Müller; R Korinthenberg
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Brain & development     Volume:  19     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  1997 Jul 
Date Detail:
Created Date:  1997-10-01     Completed Date:  1997-10-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  359-61     Citation Subset:  IM    
Department of Neuropediatrics and Muscular Diseases, Children's Hospital, University of Freiburg, Germany.
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MeSH Terms
Blotting, Southern
Dystrophin / genetics
Gene Deletion
Klinefelter Syndrome / complications*,  genetics
Muscular Dystrophies / complications*,  genetics
Reg. No./Substance:

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