Document Detail


Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
MedLine Citation:
PMID:  15645183     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on chromosome 4q. Genetic confirmation of the clinical diagnosis of FSHD is complicated by the presence of a homologous repeat on chromosome 10q and the frequent repeat exchanges between both chromosomes. Here, we describe the genetic evaluation of an FSHD patient with a complex D4Z4 allele constitution in which the potentially pathogenic allele seemingly resides on chromosome 10, despite FSHD being exclusively linked to chromosome 4. Complementary allele typing and segregation analysis confirmed the clinical diagnosis of FSHD by revealing the chromosome 4 origin of the pathogenic allele in the presence of two exchanged repeat arrays, one on chromosome 4 and one on chromosome 10, an allele constitution that cannot be identified by conventional DNA diagnosis.
Authors:
Borian T Buzhov; Richard J L F Lemmers; Ivailo Tournev; Chayka Dikova; Ivo Kremensky; Julia Petrova; Rune R Frants; Silvère M van der Maarel
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-01-12
Journal Detail:
Title:  Human genetics     Volume:  116     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-02-15     Completed Date:  2005-04-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  262-6     Citation Subset:  IM    
Affiliation:
Department of Neurology, Sofia Medical University, Sofia, Bulgaria.
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MeSH Terms
Descriptor/Qualifier:
Aged
Chromosomes, Human, Pair 10
Electrophoresis, Gel, Pulsed-Field
Female
Humans
Muscular Dystrophy, Facioscapulohumeral / genetics*
Pedigree

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