Document Detail


Partial distal 12q trisomy.
MedLine Citation:
PMID:  6971608     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two profoundly mentally retarded sisters with partial trisomy for the distal part of the long arm of chromosome 12 (12q24 leads to 12qter) are described. Their anomaly arose as a segregation product of a balanced t(12q-; 17q+) translocation in the mother. Both patients display a similar craniofacial dysmorphism, but lack gross internal or external malformations.
Authors:
A de Muelenaere; J P Fryns; H Van Den Berghe
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  23     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1980  
Date Detail:
Created Date:  1981-06-13     Completed Date:  1981-06-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  251-3     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Aberrations / genetics
Chromosome Disorders
Chromosomes, Human, 6-12 and X*
Female
Humans
Mental Retardation / genetics*
Translocation, Genetic
Trisomy*

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


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