Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patient
- 15 February 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 49 (4) , 388-392
- https://doi.org/10.1002/ajmg.1320490407
Abstract
We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y‐chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.Keywords
This publication has 28 references indexed in Scilit:
- del(18p) syndrome with complex tetralogy of fallot in an infant with 45,X,t(Y;18)(q12;q11.2)American Journal of Medical Genetics, 1992
- A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesisGenomics, 1991
- Male development of chromosomally female mice transgenic for SryNature, 1991
- Partial trisomy 18 with minimal anomalies: Lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18American Journal of Medical Genetics, 1990
- A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motifNature, 1990
- Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic maleHuman Genetics, 1988
- Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomesGenomics, 1987
- Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosomeJournal of Molecular Biology, 1985
- Mapping the Locus of the H-Y Gene on the Human Y ChromosomeScience, 1977
- Translocation Y/5 resulting in Cri du Chat syndromeClinical Genetics, 1977