Shinohara M, Minowada S, Aso Y, Yamada K, Nakahori Y, Tamura T, Nakagome Y
Department of Urology, Faculty of Medicine, University of Tokyo, Japan.
Hum Genet. 1991 Mar;86(5):442-4. doi: 10.1007/BF00194630.
A Japanese boy with genital malformation and mixed gonadal dysgenesis is described. The karyotype appeared to be 46,X t(15;Y)(p13;q11). A comparison of the Q-positive segment on der(15) with that of the paternal Y chromosome revealed, however, the loss of over half of the Q-positive segment from the paternal Y during t(15;Y) translocation. The father had an unusually long Y chromosome that corresponded to a chromosome 18. DNA analysis further revealed a deletion of the non-fluorescent part of the long arm of the Y chromosome spanning interval 5-6.
本文描述了一名患有生殖器畸形和混合性性腺发育不全的日本男孩。其核型似乎为46,X,t(15;Y)(p13;q11)。然而，将15号衍生染色体上的Q阳性片段与父源Y染色体的Q阳性片段进行比较后发现，在t(15;Y)易位过程中，父源Y染色体上超过一半的Q阳性片段缺失。父亲有一条异常长的Y染色体，其长度与18号染色体相当。DNA分析进一步显示，Y染色体长臂非荧光部分在5-6区间存在缺失。
