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

• Published in: Human molecular genetics 1993-11, Vol.2 (11), p.1853-1856
• Main Authors: WEIL, D, PORTNOÏ, M.-F, LEVILLIERS, J, WANG, I, MATHIEU, M, TAILLEMITE, J.-L, MEIER, M, BOUDAILLIEZ, B, PETIT, C
• Format: Article
• Language: English
• Subjects: Adolescent; Base Sequence; Biological and medical sciences; Chondrodysplasia Punctata - genetics; chondrodystrophy; Chromosome Banding; Chromosome Mapping; DNA - analysis; DNA Primers; gene mapping; Gynecology. Andrology. Obstetrics; Humans; Karyotyping; Male; Male genital diseases; man; Medical sciences; Molecular Sequence Data; Non tumoral diseases; Polymerase Chain Reaction; translocation; Translocation, Genetic; Turner Syndrome - genetics; Turner's syndrome; X Chromosome; Y Chromosome
• ISSN: 0964-6906; 1460-2083

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.