title: A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.
abstract: In a male patient with a 45,X karyotype, the terminal part of the Y chromosome short arm was translocated as a single block on to the X chromosome. This rearranged X chromosome was, in every regard, the same as that present in XX males resulting from an abnormal X-Y interchange. Correlations between the phenotype of this patient and the extent of the deletions on the X and Y chromosomes allowed us to map the genes responsible for most features of the Turner syndrome between DXS432 and Xqter on the X chromosome, and the homologous Y genes either on Yp in interval 4 or on Yq. The molecular analysis of this X-Y translocation allowed us also to reduce the interval for the X-linked recessive chondrodysplasia punctata gene to a 1.5 Mb interval between DXS432 and DXS31.
authors.affiliation: Institut Pasteur, Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Weil
authors.forename: M F
authors.initials: MF
authors.lastname: Portnoï
authors.forename: J
authors.initials: J
authors.lastname: Levilliers
authors.forename: I
authors.initials: I
authors.lastname: Wang
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: J L
authors.initials: JL
authors.lastname: Taillemite
authors.forename: M
authors.initials: M
authors.lastname: Meier
authors.forename: B
authors.initials: B
authors.lastname: Boudailliez
authors.forename: C
authors.initials: C
authors.lastname: Petit
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D017931:DNA Primers; D006801:Humans; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D017931:DNA Primers; D004247:DNA