Document Detail


Bloom's syndrome in a Japanese boy with lymphoma.
MedLine Citation:
PMID:  7438493     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 14-year-old boy with malignant lymphoma was identified as having Bloom's syndrome after he was shown to display a characteristically elevated frequency of spontaneous sister-chromatid exchanges. Frequencies of sister-chromatid exchanges per nucleus were 80.7 in blood lymphocytes and 29.9 in dermal fibroblasts. Clinical features, although suggestive of Bloom's syndrome, were not clear enough to permit the diagnosis. This is the first confirmed case of this rare genetic disorder in Japan, and in Asia.
Authors:
S Arase; O Takahashi; K Ishizaki; H Takebe
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  18     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1980 Aug 
Date Detail:
Created Date:  1981-02-19     Completed Date:  1981-02-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  123-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics*
Adolescent
Humans
Japan
Lymphoma / genetics*
Male
Sister Chromatid Exchange
Syndrome
Telangiectasis / diagnosis,  genetics*

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


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