title: New York State screening program for fragile X syndrome: a progress report.
abstract: New York State has established a program to screen post-pubertal mentally retarded males for the fragile X [fra(X)] syndrome. The goal of the program is to identify affected males and inform their families of the diagnosis. Females in these families who are at risk for inheriting the mutation will then be able to determine their carrier status and consider that information in making reproductive decisions. Males were evaluated for 10 features of the syndrome by physicians and nurses throughout the state; cytogenetic analysis was carried out on a subset of this population. A total of 1332 males has been screened and chromosome studies have been completed for 489. Forty-three (9%) were positive for fra(X), and an additional 11 other chromosome abnormalities were identified. The 43 patients belonged to 38 families. Of the 24 families who were informed of the diagnosis, 12 consulted genetic counseling centers for follow-up studies and 12 did not.
authors.affiliation: New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
authors.forename: S L
authors.initials: SL
authors.lastname: Nolin
authors.forename: D A
authors.initials: DA
authors.lastname: Snider
authors.forename: E C
authors.initials: EC
authors.lastname: Jenkins
authors.forename: C S
authors.initials: CS
authors.lastname: Dobkin
authors.forename: K
authors.initials: K
authors.lastname: Patchell
authors.forename: M
authors.initials: M
authors.lastname: Krawczun
authors.forename: G
authors.initials: G
authors.lastname: Strong
authors.forename: M
authors.initials: M
authors.lastname: Colwell
authors.forename: A
authors.initials: A
authors.lastname: Victor
authors.forename: T
authors.initials: T
authors.lastname: Payyapilli
mesh_terms: D000328:Adult; D000368:Aged; D003582:Cytogenetics; D004247:DNA / Q000235:genetics; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009518:New York / Q000453:epidemiology
chemical_list: D004247:DNA