Document Detail

Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+).
MedLine Citation:
PMID:  621087     Owner:  NLM     Status:  MEDLINE    
Chromosome studies on a newborn infant with the clinical features of 4p-syndrome revealed a 46,XY,4p-karyotype with deletion of bands distal to 4p14. Investigation of the family revealed normal chromosomes in the mother and a balanced translocation rcp(4;12) (p14;p13) in the father, the paternal grandfather and an uncle. A severely retarded and malformed aunt is a partial trismoy for the short arms of chromosome 4, with the unbalanced karyotype 45,XX,12p+. It appears that monosomy of bands 4p15 and 4p16 leads to the full clinical features of 4p-syndrome, while trisomy of this region causes disabilities consistent with the rather more variable 4p trisomy syndrome. From currently reported cases, a summary is presented of the results of pregnancies of both male and female translocation carriers.
J G Mortimer; W Chewings; P Miethke; G F Smith
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human heredity     Volume:  28     ISSN:  0001-5652     ISO Abbreviation:  Hum. Hered.     Publication Date:  1978  
Date Detail:
Created Date:  1978-03-21     Completed Date:  1978-03-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0200525     Medline TA:  Hum Hered     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  132-40     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / genetics
Chromosome Deletion*
Chromosomes, Human, 4-5*
Chromosomes, Human, 6-12 and X*
Translocation, Genetic*

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