Document Detail


Clinical consult: developmental delay/fragile X syndrome.
MedLine Citation:
PMID:  15331251     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fragile X syndrome is an X-linked disorder characterized primarily by speech delay and moderate mental retardation. The incidence of fragile X syndrome is estimated at 1/4000-1/6000 males and half that for females. This article presents a case study of fragile X syndrome, describing the genetics and inheritance, disease characteristics,natural history, diagnosis, differential diagnosis, and management.
Authors:
Georgia L Wiesner; Suzanne B Cassidy; Sarah J Grimes; Anne L Matthews; Louise S Acheson
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Primary care     Volume:  31     ISSN:  0095-4543     ISO Abbreviation:  Prim. Care     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-08-27     Completed Date:  2004-11-16     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0430463     Medline TA:  Prim Care     Country:  United States    
Other Details:
Languages:  eng     Pagination:  621-5, x     Citation Subset:  IM    
Affiliation:
Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA. Georgia.Wiesner@uhhs.com
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Developmental Disabilities / diagnosis,  genetics*
Female
Fragile X Syndrome* / diagnosis,  genetics,  therapy
Humans
Male
Mental Retardation / diagnosis,  genetics*
Primary Health Care

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


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