Document Detail


Specific chromosome aberrations in ataxia telangiectasia.
MedLine Citation:
PMID:  1177276     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The aberration frequency was found to be increased in all of them with a specificity for the involvement of the D-group chromosomes in rearrangements. Clones of cytogenetically abnormal cells were observed in the lymphocytes of three cases and in the cultured skin fibroblasts of two cases, again with a specificity for D-group involvement. G-banding shows that chromosome 14 is frequently involved in rearrangements in clone cells and that the band 14q12 may be a highly specific exchange point. The significance of lymphocyte clones with a proliferative advantage in vivo is discussed. Cytogenetic studies of the parents and sibs of these cases are also reported.
Authors:
J M Oxford; D G Harnden; J M Parrington; J D Delhanty
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  12     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1975 Sep 
Date Detail:
Created Date:  1975-12-30     Completed Date:  1975-12-30     Revised Date:  2010-09-10    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  251-62     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Ataxia Telangiectasia / genetics*
Child
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, 13-15*
Clone Cells / ultrastructure
Female
Fibroblasts / ultrastructure
Humans
Karyotyping
Lymphocytes / ultrastructure
Male
Pedigree
Comments/Corrections

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


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