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. © 1987 Springer-Verlag.
CITATION STYLE
Weber, B., Schempp, W., Orth, U., Seidel, H., & Gal, A. (1987). A Y/5 translocation in a 45,X male with cri du chat syndrome. Human Genetics, 77(2), 145–150. https://doi.org/10.1007/BF00272382
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