title: Genotype prediction in the fragile X syndrome.
abstract: Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis of affected males and female carriers and the identification of normal transmitting males. One fragile X negative male with the clinical features of the Martin-Bell syndrome also possesses an inserted/amplified DNA sequence. The implications of these results for screening for the fragile X syndrome are discussed.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford.
authors.forename: M C
authors.initials: MC
authors.lastname: Hirst
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahori
authors.forename: S J
authors.initials: SJ
authors.lastname: Knight
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
authors.forename: S N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: A
authors.initials: A
authors.lastname: Roche
authors.forename: T J
authors.initials: TJ
authors.lastname: Flint
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D015139:Blotting, Southern; D004247:DNA; D015342:DNA Probes; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005784:Gene Amplification; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA