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© 1993 Oxford University Press

RESEARCH-ARTICLE

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

Dominique Well, Marie-France Portnoi1, Jacquellne Levilliers, Irène Wang, Michèle Mathieu2, Jean-Louis Talliemite1, Murielle Meler1, Bernard Boudailliez2 and Christine Petit*

Institut Pasteur, Unité de Génétique Moléculaire Humaine (CNRS URA 1445) Pans 1Hôpital Saint Antoine, Laboratoire d'Embryologie Pathologique et de Cytogénétique Pans 2Hôpital Nord, Centre Hospitalier Universitaire Amiens, France

*To whom correspondence should be addressed

Received July 12, 1993; Revised September 8, 1993; Accepted September 8, 1993

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.


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