title: Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
abstract: Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.
authors.affiliation: INSERM U129-ICGM, Faculté de Médecine Cochin, Paris. bienvenu@cochin.inserm.fr
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: H
authors.initials: H
authors.lastname: Der-Sarkissian
authors.forename: P
authors.initials: P
authors.lastname: Billuart
authors.forename: M
authors.initials: M
authors.lastname: Tissot
authors.forename: V
authors.initials: V
authors.lastname: Des Portes
authors.forename: T
authors.initials: T
authors.lastname: Brüls
authors.forename: J P
authors.initials: JP
authors.lastname: Chabrolle
authors.forename: P
authors.initials: P
authors.lastname: Chauveau
authors.forename: M
authors.initials: M
authors.lastname: Cherry
authors.forename: A
authors.initials: A
authors.lastname: Kahn
authors.forename: D
authors.initials: D
authors.lastname: Cohen
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: J
authors.initials: J
authors.lastname: Chelly
authors.forename: D
authors.initials: D
authors.lastname: Cherif
mesh_terms: D002648:Child; D002871:Chromosome Banding; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D003360:Cosmids; D015342:DNA Probes; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
chemical_list: D015342:DNA Probes