Document Detail

A methodology for establishing a diagnostic index for syndromes of unknown etiology.
MedLine Citation:
PMID:  136323     Owner:  NLM     Status:  MEDLINE    
A method has been developed to test for heterogeneity in syndromes of unknown etiology and to distinguish between patients with and without the syndrome. The validity of the method was tested on a group of patients suspected of having a syndrome that can be diagnosed by other means (Down syndrome), and was found to be effective. The method was then applied to a group of patients suspected of having a syndrome of unknown etiology (de Lange). It was shown that the group appears to be heterogeneous. A preliminary diagnosis of having or not having the syndrome was made in about 80% of the patients.
M Preus; F C Fraser
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  10     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1976 Nov 
Date Detail:
Created Date:  1977-01-25     Completed Date:  1977-01-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  249-59     Citation Subset:  IM    
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MeSH Terms
De Lange Syndrome / diagnosis
Diagnosis, Differential
Down Syndrome / diagnosis
Genetic Techniques

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