Work

Fragile-X Syndrome: Variability of Phenotypic Expression

Year: 1987

Type: review

Abstract: Fragile-X syndrome is a recently described X-linked disorder that ranks second to Down syndrome as the most prevalent chromosomal form of mental retardation. Affected male individuals manifest a variable clinical phenotype that includes distinctive facial features, macroorchidism, cognitive and language impairments, and an impressive prevalence of attention deficit disorder and infantile autism. A sizable proportion of female carriers are similarly affected. The molecular basis for these phenotypic features has not been established, nor have the factors mediating the variable expression of the syndrome in vulnerable individuals. However, improved behavioral functioning in prepubertal children may result from early identification and folate supplementation.

Source: Journal of the American Academy of Child & Adolescent Psychiatry

DOI: 10.1097/00004583-198707000-00001

Authors: JOEL D. BREGMAN, ELISABETH DYKENS, MICHAEL WATSON, SHARON I. ORT, JAMES F. LECKMAN

Institution: Yale University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,710