PMID: 3557449Mar 1, 1987Paper

Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe

Human Genetics
R E MagenisR R Sheehy

Abstract

Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.

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Citations

Aug 1, 1995·Genes, Chromosomes & Cancer·R SultanaC M Disteche
Nov 1, 1995·Genes, Chromosomes & Cancer·P SaloA de la Chapelle
Sep 5, 2002·Prenatal Diagnosis·V NatafJ Selva
Jun 1, 1991·Human Genetics·J ArnemannI Hansmann
Oct 1, 1987·Human Genetics·B WeberA Gal
Sep 10, 1988·BMJ : British Medical Journal·M A Ferguson-Smith
Oct 1, 1990·Urology·G Zakharia, D J Krauss
Jan 8, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ruen YaoYiping Shen
Feb 15, 1994·American Journal of Medical Genetics·S B FarahC Hackel
Oct 1, 1989·American Journal of Medical Genetics·N BlagowidowM T Mennuti
Jan 1, 1990·Hereditas·C VallenzascaA Galli
Mar 9, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Anca Grigorescu-SidoMarkus Bettendorf
Dec 22, 1999·American Journal of Medical Genetics·E MargaritF Ballesta

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