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. |