A Y/5 translocation in a 45,X male with cri du chat syndrome
- 1 October 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 77 (2) , 145-150
- https://doi.org/10.1007/bf00272382
Abstract
In a patient described as a 45,X male with cri du chat syndrome, combined cytogenetic and molecular methods revealed Y euchromatic material to be translocated onto the short arm of one chromosome 5, resulting in a chromosome der(5)(5qter→5p14::Yp11.31→Ypter). The translocated Y euchromatin comprised only the distal short arm including the pseudoautosomal region and the so-called deletion intervals 1 and 2. A review of 45,X males from the literature showed that; most of them carry a paternally transmitted Y/autosome translocations; resulting in various autosomal deletions. Depending on the segment concerned, the deletion led to congenital malformations.This publication has 38 references indexed in Scilit:
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