Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

@article{Flori2005Trisomy7M,
  title={Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome},
  author={Elisabeth Flori and Emmanuelle Girodon and Brigitte Samama and François Becmeur and Brigitte Viville and Françoise Girard-Lemaire and B. J. Doray and Caroline Schluth and Luc Marcellin and Nelly Boehm and Michel Goossens and V{\'e}ronique Pingault},
  journal={European Journal of Human Genetics},
  year={2005},
  volume={13},
  pages={1013-1018}
}
Prenatal trisomy 7 is usually a cell culture artifact in amniocytes with normal diploid karyotype at birth and normal fetal outcome. In the same way, true prenatal trisomy 7 mosaicism usually results in a normal child except when trisomic cells persist after birth or when trisomy rescue leads to maternal uniparental disomy, which is responsible for 5.5–7% of patients with Silver–Russell syndrome (SRS). We report here on the unusual association of SRS and Hirschsprung's disease (HSCR) in a… CONTINUE READING

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