Document Detail


Two cases of 8p trisomy in one sibship.
MedLine Citation:
PMID:  1126055     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two cases of 8p trisomy in one sibship are presented. The father was a balanced carrier of a translocation rcp (8;13) (p11; q34). Case 1 was a 2-year -old boy with multiple minor anomalies and severe mental retardation. Giemsa banding studies revealed that he was trisomic for the greater part of 8p (8p11 yields pter). When his mother became pregnant again, amniocentesis was carried out in the 17th week of gestation. The fetus (Case 2) was shown to have the same 8p trisomy as Case 1. The pregnancy was terminated in the 22nd week. An autopsy revealed no major anomalies. Clinical features of cases with 8 and 8p trisomy are reviewed briefly.
Authors:
H A Chiyo; Y Nakagome; I Matsui; Y Kuroki; H Kobayashi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  7     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1975 Apr 
Date Detail:
Created Date:  1975-07-18     Completed Date:  1975-07-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  328-33     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosomes, Human, 6-12 and X*
Dermatoglyphics
Female
Fetus
Humans
Karyotyping
Male
Pregnancy
Translocation, Genetic
Trisomy*

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