Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.

@article{Roepke2004SexCM,
  title={Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.},
  author={Albrecht Roepke and Antje-Friederike Pelz and Marianne Volleth and H Schl{\"o}sser and Susanne Morlot and Peter F. Wieacker},
  journal={American journal of obstetrics and gynecology},
  year={2004},
  volume={190 4},
  pages={1059-62}
}
OBJECTIVES In most cases, XX or XY gonadal dysgenesis remains genetically unexplained. In this pilot study we searched for sex-chromosomal mosaicism in gonads of patients with XX or XY gonadal dysgenesis of undetermined origin. STUDY DESIGN Gonadal tissues were analyzed by cytogenetic and interphase fluorescence in-situ hybridization (FISH) analyses in four patients with gonadal dysgenesis and normal female (46,XX) or male (46,XY) karyotypes in lymphocytes. RESULTS Cytogenetic and FISH… CONTINUE READING
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