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.
Wiesner
Georgia L
GL
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
Cassidy
Suzanne B
SB
Grimes
Sarah J
SJ
Matthews
Anne L
AL
Acheson
Louise S
LS
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