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Clin Pediatr (Phila). 2005 Jun;44(5):371-81.

Fragile X syndrome: an update and review for the primary pediatrician.

Author information

1
Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.

Abstract

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. Since the initial identification of the responsible gene more than a decade ago, substantial progress has been made in both the clinical aspects of the disorder and its mechanistic basis; hence, it is important for primary care physicians to be familiar with these advances when providing anticipatory guidance. Timely diagnosis allows children to receive early intervention services and families to receive genetic counseling. Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members.

PMID:
15965543
DOI:
10.1177/000992280504400501
[Indexed for MEDLINE]

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