Document Detail


Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12).
MedLine Citation:
PMID:  7307309     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A patient with several cogenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46,X,der(X),t,X;3)(Xqter leads to p21::3q12 leads to 3qter). A comparison of the clinical and cytogenetical findings with smaller cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient.
Authors:
J W Oorthuys; R M Slater; H Barrowclough; M J de Kleine
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  20     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1981 Aug 
Date Detail:
Created Date:  1982-02-12     Completed Date:  1982-02-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  130-4     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Chromosomes, Human, 1-3*
Female
Humans
Infant, Newborn
Sex Chromosomes*
Translocation, Genetic*
Trisomy*
X Chromosome*

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


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