Molecular characterization of an unusual variant of the short arm of chromosome 15 by FISH-technique

Summary One of the most frequent translocations involving the long arm of chromosome Y with autosomes is with the short arm of chromosome 15. The regions which are involved in this translocation fluoresce brightly, are highly heteromorphic and thus escape detection. Therefore, these abnormalities could not be fully characterized, especially in cases where parents are not available or paternity is disputed. Results from the employment of the selective staining techniques DA/DAPI and Q-banding have been inconclusive. FISH-technique using whole chromosome painting (WCP) probes should be used to decipher such translocations. We present a case where, even after using a battery of probes, the origin of extra material on chromosome 15p could not be identified though it was not a part of Yq.