Document Detail

Specific chromosome aberrations in ataxia telangiectasia.
MedLine Citation:
PMID:  1177276     Owner:  NLM     Status:  MEDLINE    
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.
J M Oxford; D G Harnden; J M Parrington; J D Delhanty
Related Documents :
15041216 - Statistical analyses of karyotypic complexity in head and neck squamous cell carcinoma.
15866096 - Genetic imbalances in endometrial hyperplasia and endometrioid carcinoma detected by co...
9134046 - Observations by chromosome banding, fish and immunohistochemistry in an adenoid cystic ...
8697416 - Detection of aneuploidy in interphase nuclei from non-small cell lung carcinomas by flu...
16997416 - Raising the curtains on interchromosomal interactions.
16959246 - Chronic idiopathic myelofibrosis (cimf) resulting from a unique 3;9 translocation disru...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Ataxia Telangiectasia / genetics*
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, 13-15*
Clone Cells / ultrastructure
Fibroblasts / ultrastructure
Lymphocytes / ultrastructure

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

Previous Document:  Methyl 5(6)-phenylsulfinyl-2-benzimidazolecarbamate, a new, potent anthelmintic.
Next Document:  Homozygous haemoglobin D Punjab.