Document Detail

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
MedLine Citation:
PMID:  7815425     Owner:  NLM     Status:  MEDLINE    
A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.
J Wolstenholme; J Brown; K G Masters; C Wright; C J English
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1995-02-09     Completed Date:  1995-02-09     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  647-8     Citation Subset:  IM    
Department of Human Genetics, University of Newcastle upon Tyne, UK.
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MeSH Terms
Abnormalities, Multiple / embryology,  genetics*
Abortion, Induced
Blepharophimosis / embryology,  genetics*
Blepharoptosis / embryology,  genetics*
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 3 / ultrastructure*
Fetal Diseases / genetics*
Gestational Age
Hernia, Diaphragmatic / embryology,  genetics*
Sequence Deletion*

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

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