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A novel Y/13 translocation was discovered in a female fetus during amniocentesis. The familial translocation is present in a phenotypically normal female sibling and in the father who also possesses a pericentric inversion. Karyotype of the father is 46,XY,-13,+der(13)t(Y;13)(q12;p12),inv(22)(p13q12.1).
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