A Case of Variants of Turner Syndrome Showing 45 , tX , dic(X ; X) (q28 ; q26) , der (13 ; 14) (q10 ; q10)/44 , X , der (13 ; 14) (q10 ; q10) Karyothype.

Park, J G; Kang, G C; Lee, J Y; Yang, S O; Kee, K S; lm, H J

Case Report

Korean Journal of Obstetrics & Gynecology 1998;41(7):2044-2047.
Published online January 1, 2001.

A Case of Variants of Turner Syndrome Showing 45 , tX , dic(X ; X) (q28 ; q26) , der (13 ; 14) (q10 ; q10)/44 , X , der (13 ; 14) (q10 ; q10) Karyothype.

J G Park, G C Kang, J Y Lee, S O Yang, K S Kee, H J lm

Abstract

Turner syndrome, the most common female gonadal dysgenesis, is characterized by short stature, sexual infantilism, neck webbing, cubitus valgus and low posterior hairline, which is often associated with many variant mosaicisms and aberrations of X chromosome. We experienced a case of 16-year-old phenotypic female examined because of delayed puberty and primary amenorrhea, and showing 45,tX,dic(X;X)(q28;q26),der(13;14)(q10;q10)/44,X,der(13;14)(q10;q10) karyotype. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literatures.

Key Words: Turner syndrome, Mosaicism, Gonadal dysgenesis