title: Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.
abstract: The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults, and in one clinically normal male. None of the members of this family is affected with the mental retardation normally linked to this fragile site. Cytogenetic and flanking DNA marker polymorphism studies suggest a possible dissociation between the fragile site and clinical expression of the disease.
authors.affiliation: Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Voelckel
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: C
authors.initials: C
authors.lastname: Piquet
authors.forename: M C
authors.initials: MC
authors.lastname: Pellissier
authors.forename: I
authors.initials: I
authors.lastname: Oberlé
authors.forename: F
authors.initials: F
authors.lastname: Birg
authors.forename: M G
authors.initials: MG
authors.lastname: Mattei
authors.forename: J F
authors.initials: JF
authors.lastname: Mattei
mesh_terms: D000328:Adult; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers