title: Early manifestations of the Martin-Bell syndrome based on a series of both sexes from infancy.
abstract: A small series of male and female fra(X) positive children is reviewed retrospectively clinically and photographically to identify a profile of age-related manifestations and behavioral traits of predictive value. This method involves a crossmatch with the cases and trait lists in the POSSUM Data Base. The plan then is to test the sensitivity and specificity in a prospective series. If this proves reliable, a request for a fra(X) cytogenetic analysis could be limited to the clinically screened matching cases, rather than the present costly exercise of testing all undiagnosed intellectually handicapped children.
authors.affiliation: Clinical Genetics Unit, Princess Margaret Hospital for Children, West Perth, Western Australia.
authors.forename: A
authors.initials: A
authors.lastname: Hockey
authors.forename: J
authors.initials: J
authors.lastname: Crowhurst
mesh_terms: D002652:Child Behavior; D002675:Child, Preschool; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D006801:Humans; D007223:Infant; D007256:Information Systems; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*