| Affiliation: | (1) Department of Congenital Abnormalities Research, National Children's Medical Research Center, 3-35-31 Taishido Setagaya-ku, Tokyo, Japan;(2) Department of Pediatrics, Tokyo Medical College, Tokyo, Japan;(3) Department of Clinical Genetics, School of Health Science, Kyorin University, Tokyo, Japan;(4) Department of Urology, Matsumura General Hospital, Iwaki, Japan;(5) Department of Urology, Osaka University Medical School, Osaka, Japan;(6) Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan;(7) Department of Urology, Toyama Medical and Pharmaceutical University, Toyama, Japan;(8) First Department of Internal Medicine, Gunma University School of Medicine, Maebashi, Japan;(9) Department of Urology, Asoka Hospital, Tokyo, Japan;(10) Department of Urology, Tokyo Teishin Hospital, Tokyo, Japan;(11) Divison of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan;(12) Department of Genetics, Tokyo Medical and Dental University, Tokyo, Japan;(13) Department of Urology, Faculty of Medicine, University of Tokyo, Japan;(14) Department of Human Genetics, School of International Health, University of Tokyo, 7-3-1 Hongo, 113 Tokyo, Japan |
| Abstract: | Fourteen 46,XX  males were analyzed by Southern blot hybridization with seventeen different Y chromosome-derived DNA probes and by the polymerase chain reaction for an additional two sites on the short arm of Y. Eight 46,XX males possessed various segments of the short arm of the Y chromosome, including the sex determining region. The detected segments ranged from the two most distal loci to nearly the entire length of the short arm, viz., 10 out of 11 loci. None of the eight patients had hypospadia. Five out of the six remaining cases had hypospadia and no Y sequence was detected, suggesting the presence of a causative difference between hypospadiac and non-hypospadiac groups. |
