Y Chromosome Specific DNA Probe in the Diagnosis of a Patient with mos 45, X/46, XYnf |
| |
| Authors: | Tohru Yorifuji M.D. Toru Momoi M.D. Takako Sonomura M.D. Chutaro Yamanaka M.D. Masayuki Kaji M.D. Haruki Mikawa M.D. Kyoko Kitagawa M.D. Hiroshi Ozasa M.D. Shunzo Tai M.D. Takahide Mori M.D. |
| |
| Affiliation: | Department of Pediatrics;*Department of Obstetrics and Gynecology, Faculty of Medicine, Kyoto University, Kyoto |
| |
| Abstract: | ![]()
In a patient with mos 45,X/46,XYnf, the diagnosis was confirmed with a Y chromosome-specific DNA probe, Y-190. The patient was a phenotypic female without Turner syndrome stigmata other than short stature. She showed some evidence of virilization and high serum testosterone. Her peripheral blood karyotype was mos 45,X/46X, +mar. Although this marker chromosome resembled a Y chromosome, there was no quinacrine bright region on its long arm. Southern blot analysis of her peripheral blood mononuclear cell DNA with Y-190 as a probe showed strong hybridization with this probe. Gonadectomy was performed, and bilateral gonadoblastomas were found. |
| |
| Keywords: | mos 45 X/46 XYnf Y chromosome specific DNA probe Gonadoblastoma |
|
|
