Document Detail


Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10).
MedLine Citation:
PMID:  20944443     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy caused by mutations in the dystrophin gene and it affects males predominantly. Here we report a 4-year-old girl with DMD from a healthy family, in which her parents and sister have no DMD genotype. A PCR-based method of multiple ligation-dependent probe amplification (MLPA) analysis showed the deletion of exons 46 and 47 in the dystrophin gene, which led to loss of dystrophin function. No obvious phenotype of Turner syndrome was observed in this patient and cytogenetic analysis revealed that her karyotype is 46,X,i(X)(q10). In conclusion, we describe the first female patient with DMD who carries a de novo mutation of the dystrophin gene in one chromosome and isochromosome Xq, i(Xq), in another chromosome.
Authors:
Zhanhui Ou; Shaoying Li; Qing Li; Xiaolin Chen; Weiqiang Liu; Xiaofang Sun
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Tohoku journal of experimental medicine     Volume:  222     ISSN:  1349-3329     ISO Abbreviation:  Tohoku J. Exp. Med.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-10-14     Completed Date:  2011-01-28     Revised Date:  2013-01-03    
Medline Journal Info:
Nlm Unique ID:  0417355     Medline TA:  Tohoku J Exp Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  149-53     Citation Subset:  IM    
Affiliation:
Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Duobao Road, Guangzhou, China.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, X*
DNA Mutational Analysis / methods
Dystrophin / deficiency,  genetics*
Female
Humans
Muscular Dystrophy, Duchenne / genetics*
Mutation
Nucleic Acid Amplification Techniques / methods
Parents
Pedigree
Siblings
Young Adult
Chemical
Reg. No./Substance:
0/Dystrophin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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