Document Detail


Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.
MedLine Citation:
PMID:  7315875     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A patient with duplication of a short segment of 3q (3q21 leads to 26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.
Authors:
W Rosenfeld; R S Verma; R C Jhaveri; R Estrada; H Evans; H Dosik
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  10     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1981  
Date Detail:
Created Date:  1982-02-12     Completed Date:  1982-02-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  187-92     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosome Aberrations / genetics*
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, 1-3 / ultrastructure*
Female
Heart Defects, Congenital / genetics
Humans
Infant, Newborn
Karyotyping

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


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