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A Y/5 translocation in a 45,X male with cri du chat syndrome

Weber, Bernhard H. F. ; Schempp, W. ; Orth, U. ; Seidel, H. ; Gal, A.


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 ...


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