Document Detail


The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.
MedLine Citation:
PMID:  6711598     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A review of 61 males with the fragile X positive form of the Martin Bell syndrome from 30 families seen in the past 4 years suggests that the number of lymphocytes with the fragile site on the X chromosome (fra(X) ) in retarded males tends to be characteristic for the individual and similar to that found in other retarded males in the same family. The number of lymphocytes with fra(X) was not correlated with height, weight, occipitofrontal circumference, ear length or mean testicular volume in adults nor with age over the whole series.
Authors:
D Soudek; M W Partington; J S Lawson
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  17     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1984 Jan 
Date Detail:
Created Date:  1984-05-11     Completed Date:  1984-05-11     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  241-52     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Cells, Cultured
Child
Chromosome Fragile Sites
Chromosome Fragility*
Fragile X Syndrome / genetics*,  pathology
Genetic Variation*
Humans
Leukocyte Count
Lymphocytes / pathology*,  ultrastructure
Male
Mental Retardation / genetics,  pathology
Middle Aged
Pedigree
Sex Chromosome Aberrations / genetics*

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


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