Document Detail


Fragile X syndrome.
MedLine Citation:
PMID:  3325231     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because of its characteristic fragile site on the X chromosome. It has puzzled geneticists because of its unusual inheritance pattern involving nonpenetrant males. This syndrome has also spearheaded an appreciation of cytogenetic abnormalities in the etiology of all degrees of developmental delay.
Authors:
R J Hagerman
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current problems in pediatrics     Volume:  17     ISSN:  0045-9380     ISO Abbreviation:  Curr Probl Pediatr     Publication Date:  1987 Nov 
Date Detail:
Created Date:  1988-03-29     Completed Date:  1988-03-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  1272515     Medline TA:  Curr Probl Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  621-74     Citation Subset:  IM    
Affiliation:
University of Colorado Health Sciences Center, Denver.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Child
Child Behavior
Combined Modality Therapy
Diagnosis, Differential
Female
Fragile X Syndrome / genetics*,  psychology,  therapy
Genetic Counseling
Heterozygote
Humans
Infant, Newborn
Intelligence
Karyotyping
Language Development
Male
Sex Chromosome Aberrations / genetics*

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


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