title: Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.
abstract: Individuals in South Carolina with the Fragile X [fra(X)] or Martin-Bell syndrome have been ascertained by referral for evaluation of facial abnormalities, macroorchidism or mental deficit; by screening patients in residential and day programs for the mentally retarded; and by family follow up after an index case has been identified. Between 1982 and 1987, 100 positive fra(X) males were diagnosed. Of these, 35 were residents of residential facilities for the mentally retarded representing 2.5% of the population of institutionalized males. Another 23 were found in community day programs for the mentally retarded. Of these 58 cases, 28 (48%) were ascertained by screening for the craniofacial characteristics of the Martin-Bell syndrome, namely long face, midface hypoplasia, prominent forehead, large mandible and large simple pinnae. Although this screening procedure proved to be productive, it was found that the craniofacial traits of long face, midface hypoplasia, large jaw and simple pinnae were found less frequently in black fra(X) positive males and in prepubertal boys of both races.
authors.affiliation: Greenwood Genetic Center, South Carolina 29646.
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: M C
authors.initials: MC
authors.lastname: Phelan
authors.forename: L H
authors.initials: LH
authors.lastname: Pulliam
authors.forename: G
authors.initials: G
authors.lastname: Wilkes
authors.forename: L V
authors.initials: LV
authors.lastname: Vanner
authors.forename: K L
authors.initials: KL
authors.lastname: Albiez
authors.forename: W A
authors.initials: WA
authors.lastname: Potts
authors.forename: R C
authors.initials: RC
authors.lastname: Rogers
authors.forename: R J
authors.initials: RJ
authors.lastname: Schroer
authors.forename: R A
authors.initials: RA
authors.lastname: Saul
mesh_terms: D044383:Black People / Q000235:genetics; D004812:Epidemiologic Methods; D005145:Face / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000517:prevention & control; D006801:Humans; D008297:Male; D008403:Mass Screening; D012729:Sex Chromosome Aberrations / Q000453:epidemiology*; D012886:Skull / Q000002:abnormalities; D013022:South Carolina; D044465:White People / Q000235:genetics; D001741:Black or African American