A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion.

Cho, Yun Young; Cho, Chool Hyun; Yu, Seok Dong; Kim, Hyang Mi; Park, Jong Bae

Case Report

Korean Journal of Obstetrics & Gynecology 2006;49(4):892-898.
Published online April 1, 2006.

A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion.

Yun Young Cho, Chool Hyun Cho, Seok Dong Yu, Hyang Mi Kim, Jong Bae Park

Department of Obstetrics and Gynecology, Seoul Adventist Hospital, Seoul, Korea. lt3255@hanmail.net

Abstract

46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and immature secondary sexual characteristics. Cytogenetic analysis including GTG banding revealed 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] mosaicism, and X/Y chromosome Fluorescence in situ hybridization (FISH) analysis result was ish (SRY-,DYZ3-)[16]/ ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4] and its meaning was coexistence of microdeletion and inversion of Y chromosome. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literature.

Key Words: Turner syndrome, 46,X,inv(Y)/45,X mosaicism, Y chromosome microdeletion