Document Detail


Metacarpophalangeal pattern profile analysis in fragile X syndrome.
MedLine Citation:
PMID:  3239565     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression.
Authors:
M G Butler; M Fletcher; D D Gale; F J Meaney; D R McLeod; J Fagan; N J Carpenter
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  31     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Dec 
Date Detail:
Created Date:  1989-05-05     Completed Date:  1989-05-05     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  767-73     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Finger Joint / radiography*
Fragile X Syndrome / radiography*
Genetic Testing
Humans
Male
Metacarpophalangeal Joint / radiography*
Probability
Sex Chromosome Aberrations / radiography*

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


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