Document Detail


"Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).
MedLine Citation:
PMID:  2817779     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.
Authors:
J C de Almeida; D F Reis; J C Llerena; E T Pereira
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annales de génétique     Volume:  32     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1989  
Date Detail:
Created Date:  1989-12-01     Completed Date:  1989-12-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  181-3     Citation Subset:  IM    
Affiliation:
Unidade de Citogenetica Humana, Instituto de Biofisica Carlos Chagas Filho CCS, UFRJ, BLOCO G, Cidade Universitária, Rio de Janeiro, Brasil.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Adult
Child, Preschool
Chromosome Aberrations / genetics*,  pathology
Chromosome Disorders
Chromosomes, Human, Pair 3 / ultrastructure*
Cleft Lip / genetics
Cleft Palate / genetics
Female
Fingers / abnormalities
Humans
Infant, Newborn
Male
Mental Retardation / genetics*
Translocation, Genetic*
Trisomy*
X Chromosome / ultrastructure*

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


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