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DNA analysis of two patients with a non-fluorescent y chromosome
Authors:Takashi Sekine  Keiko Fukutani  Tomiko Motegi  Hiroshi Hayakawa  Takashi Tamura  Shigeo Nagafuchi  Yutaka Nakahori  Yasuo Nakagome
Affiliation:(1) Department of Pediatrics, Mejirodai Campus of Tokyo University Hospital, Mejirodai, Bunkyo-ku, 112 Tokyo, Japan;(2) Department of Urology, Asoka Hospital, Sumiyoshi, Koto-ku, 135 Tokyo, Japan;(3) Department of Congenital Abnormalities Research, National Children's Medical Research Center, Taishido, Setagaya-ku, 154 Tokyo, Japan;(4) Department of Human Genetics, School of International Health, University of Tokyo, Hongo, Bunkyo-ku, 113 Tokyo, Japan
Abstract:
Summary Results of DNA study on two patients of gonadal dysgenesis with a 45,X/46,X,Ynf (non-fluorescent Y chromosome) karyotype are described. In one patient who developed gonadoblastoma, all 12 loci on the non-fluorescent part of Yq were detected. Another patient did not have gonadoblastoma at 20 years, and only the proximal 6 loci out of 12 were detected.
Keywords:gonadoblastoma  gonadal dysgenesis  DNA analysis  Y chromosome
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