Document Detail


Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation.
MedLine Citation:
PMID:  478537     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A partial trisomy for the distal segment of the long arm of chromosome 7 (bands q32 replaced by qter) was observed in a severely retarded child with somatic and CNS anomalies. The phenotypically normal father and paternal grandmother had a balanced reciprocal translocation between the long arm of a chromosome 2 and the long arm of a chromosome 7: 46,XX-XY,t(2;7) (q37;q32). The clinical features of the child at birth and at the ages of 5 months and 2 years are compared with those previously reported in cases of partial trisomy 7q.
Authors:
M Schmid; J Wolf; H Nestler; W Krone
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  49     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1979 Jul 
Date Detail:
Created Date:  1979-11-29     Completed Date:  1979-11-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  283-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, 1-3
Chromosomes, Human, 6-12 and X*
Dermatoglyphics
Follow-Up Studies
Humans
Infant, Newborn
Male
Mental Retardation / genetics
Phenotype
Translocation, Genetic
Trisomy*

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


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