Verma R S, Kleyman S M, Conte R A
Division of Genetics, Long Island College Hospital-SUNY, Health Science at Brooklyn 11201, USA.
Jpn J Hum Genet. 1996 Sep;41(3):307-11. doi: 10.1007/BF01913173.
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.
涉及Y染色体长臂与常染色体的最常见易位之一是与15号染色体短臂的易位。参与这种易位的区域荧光强烈,高度异态,因此难以检测到。因此,这些异常无法得到充分表征,尤其是在父母无法提供或亲子关系存在争议的情况下。使用DA/DAPI和Q带选择性染色技术的结果尚无定论。应使用全染色体涂染(WCP)探针的荧光原位杂交(FISH)技术来解读此类易位。我们报告一例,即使使用了一系列探针,15号染色体短臂上额外物质的来源仍无法确定,尽管它不是Y染色体长臂的一部分。