Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8

@article{DeBrasi1995DoubleAM,
  title={Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8},
  author={Daniele DeBrasi and Maurizio Genuardi and A D'agostino and Fabrizio Calvieri and Carla Tozzi and Stelio Varrone and Giovanni Neri},
  journal={Human Genetics},
  year={1995},
  volume={95},
  pages={519-525}
}
We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell… CONTINUE READING