A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis |
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| Authors: | Mitsuru Shinohara Shigeru Minowada Yoshio Aso Kiyomi Yamada Yutaka Nakahori Takashi Tamura Yasuo Nakagome |
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| Institution: | (1) Department of Urology, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan;(2) Department of Genetics, National Medical Center Hospital, Tokyo, Japan;(3) Department of Congenital Abnormalities Research, National Children's Medical Research Center, 3-35-31 Taishido, Setagaya-ku, Tokyo 154, Japan;(4) Department of Clinical Genetics, Kyorin University School of Health Sciences, Tokyo, Japan |
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| Abstract: | Summary 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. |
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