Korean J Obstet Gynecol.  2006 Apr;49(4):892-898.

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

• Cho YY
• Cho CH
• Yu SD
• Kim HM
• Park JB

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.

Keyword

Turner syndrome; 46,X,inv(Y)/45,X mosaicism; Y chromosome microdeletion

MeSH Terms

Adult
Amenorrhea
Chromosome Disorders
Cytogenetic Analysis
Female
Fluorescence
Humans
In Situ Hybridization
Karyotype*
Mosaicism
Turner Syndrome*
Y Chromosome*