A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion.
- Author:
Yun Young CHO
1
;
Chool Hyun CHO
;
Seok Dong YU
;
Hyang Mi KIM
;
Jong Bae PARK
Author Information
1. Department of Obstetrics and Gynecology, Seoul Adventist Hospital, Seoul, Korea. lt3255@hanmail.net
- Publication Type:Case Report
- Keywords:
Turner syndrome;
46,X,inv(Y)/45,X mosaicism;
Y chromosome microdeletion
- MeSH:
Adult;
Amenorrhea;
Chromosome Disorders;
Cytogenetic Analysis;
Female;
Fluorescence;
Humans;
In Situ Hybridization;
Karyotype*;
Mosaicism;
Turner Syndrome*;
Y Chromosome*
- From:Korean Journal of Obstetrics and Gynecology
2006;49(4):892-898
- CountryRepublic of Korea
- Language:Korean
-
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.
