title: Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.
abstract: We report on a large family (4 generations), with 77 studied individuals, 9 mentally retarded males, and one affected female with fragile X syndrome [fra(X)]. The analysis of 6 flanking polymorphic DNA markers showed that the affection is transmitted, through the carrier daughters to the grandsons and the greatgrandsons and that the great-grandfather is a transmitting male. This observation led us to question the importance of these clinically normal males, who are nonexpressing carriers and termed transmitting males. One propositus, described as a mentally retarded young man, had inherited identical restriction polymorphisms from his mother. Chromosome analysis showed a Klinefelter syndrome, with a fragile site in 18% of the cells leading to the conclusion that the nondisjunction occurred at the first stage of the maternal meiosis.
authors.affiliation: INSERM, Unité 242, Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Voelckel
authors.forename: M C
authors.initials: MC
authors.lastname: Pellissier
authors.forename: C
authors.initials: C
authors.lastname: Piquet
authors.forename: C
authors.initials: C
authors.lastname: N'Guyen
authors.forename: I
authors.initials: I
authors.lastname: Boccaccio
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: J F
authors.initials: JF
authors.lastname: Mattei
mesh_terms: D015342:DNA Probes; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D009630:Nondisjunction, Genetic; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D005819:Genetic Markers