Document Detail

A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.
MedLine Citation:
PMID:  9783707     Owner:  NLM     Status:  MEDLINE    
We have used double fluorescence in situ hybridisation to study the involvement of centromeres and paracentromeric heterochromatin in the chromosome abnormalities seen in the ICF syndrome. To detect centromeres, we used a probe which labelled alphoid satellite DNA, and for the paracentromeric heterochromatin a probe for classical satellite II. Our results show that it is always the paracentromeric heterochromatin of the relevant chromosomes that becomes decondensed in this syndrome and which fuses to produce multiradial configurations. However, the centromeric regions, identified by their content of alphoid satellite DNA, appear never to become decondensed and always remain outside the regions of chromosome fusion in the multiradials.
A T Sumner; A R Mitchell; P M Ellis
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  35     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-01-05     Completed Date:  1999-01-05     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  833-5     Citation Subset:  IM    
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
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MeSH Terms
Centromere / genetics*
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human
DNA, Satellite
Face / abnormalities*
Heterochromatin / genetics*
Immunologic Deficiency Syndromes / genetics*
In Situ Hybridization, Fluorescence*
Reg. No./Substance:
0/DNA, Satellite; 0/Heterochromatin

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

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