Y chromosome specific DNA probe in the diagnosis of a patient with mos 45,X/46,XYnf

Acta Paediatrica Japonica; Overseas Edition
T YorifujiT Mori

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.

References

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May 1, 1987·European Journal of Pediatrics·J Knudtzon, D Aarskog
Jun 1, 1970·Cancer·R E Scully
Aug 1, 1967·Cancer·J Teter, K Boczkowski
Jul 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·D DiMaioT Maniatis

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