Korean J Obstet Gynecol.  1998 Jul;41(7):2044-2047.

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 JG
• Kang GC
• Lee JY
• Yang SO
• Kee KS
• lm HJ

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.

Keyword

Turner syndrome; Mosaicism; Gonadal dysgenesis

MeSH Terms

Adolescent
Amenorrhea
Female
Gonadal Dysgenesis
Humans
Karyotype
Mosaicism
Neck
Puberty, Delayed
Sexual Infantilism
Turner Syndrome*
X Chromosome