[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) mosaicism in a female patient with gonadal dysgenesis and the stigmata of Turner's syndrome]

Rev Clin Esp. 1991 Jun;189(1):23-5.
[Article in Spanish]

Abstract

A 17-year-old girl was referred to us because of primary amenorrhea and features of Turner's Syndrome. The karyotype obtained from peripheral lymphocytes cultures was mos 45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12). The karyotype of fibroblasts derived from cultures of both gonads was mos 45, X/46, XYnf/47, XYnfYnf. The Y chromosome was non-fluorescent in all the examined lines. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amenorrhea / diagnosis
  • Amenorrhea / genetics
  • Female
  • Gonadal Dysgenesis, 46,XY / diagnosis
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Karyotyping
  • Mosaicism / genetics*
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*