Clinical consult: developmental delay/fragile X syndrome

Georgia L Wiesner; Suzanne B Cassidy; Sarah J Grimes; Anne L Matthews; Louise S Acheson

doi:10.1016/j.pop.2004.04.008

Clinical consult: developmental delay/fragile X syndrome

Prim Care. 2004 Sep;31(3):621-5, x. doi: 10.1016/j.pop.2004.04.008.

Authors

Georgia L Wiesner¹, Suzanne B Cassidy, Sarah J Grimes, Anne L Matthews, Louise S Acheson

Affiliation

¹ 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

PMID: 15331251
DOI: 10.1016/j.pop.2004.04.008

Abstract

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.

Publication types

Review

MeSH terms

Child, Preschool
Developmental Disabilities / diagnosis
Developmental Disabilities / genetics*
Female
Fragile X Syndrome* / diagnosis
Fragile X Syndrome* / genetics
Fragile X Syndrome* / therapy
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Primary Health Care