Clinical consult: developmental delay/fragile X syndrome.
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.
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
Georgia L
GL
Wiesner
Suzanne B
SB
Cassidy
Sarah J
SJ
Grimes
Anne L
AL
Matthews
Louise S
LS
Acheson
D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D011320:Primary Health Care