Document Detail


Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant.
MedLine Citation:
PMID:  6493884     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The fragile-X syndrome, an X-linked form of mental retardation, is estimated to affect one in every 1,000 to 2,000 live-born male infants. Most commonly, fragile-X syndrome has been detected only after patients clearly demonstrate developmental delay, and frequently detection occurs only if the family history is consistent with X-linked mental retardation. Macro-orchidism is a finding commonly associated with the fragile-X syndrome. It has been suggested that the sparsity of reports of macro-orchidism among prepubertal boys with the fragile-X syndrome might be due to lack of careful measurement of the tests rather than to initiation of the enlargement at puberty. A 5-month-old infant with fragile-X syndrome, ascertained through testicular enlargement noted by actual measurement of testicular size as part of his physical examination, is reported.
Authors:
R Carmi; D L Meryash; J Wood; P S Gerald
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatrics     Volume:  74     ISSN:  0031-4005     ISO Abbreviation:  Pediatrics     Publication Date:  1984 Nov 
Date Detail:
Created Date:  1984-12-05     Completed Date:  1984-12-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  883-6     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Child Development
Cytodiagnosis
Female
Fragile X Syndrome / diagnosis*
Humans
Infant
Male
Mental Retardation / genetics
Sex Chromosome Aberrations / diagnosis*
Testis / pathology*

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


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