Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies

@article{Bartsch2005FortytwoSM,
  title={Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies},
  author={Oliver Bartsch and Anne Loitzsch and Peter Kozlowski and Marie-Luise Mazauric and Gabriele Hickmann},
  journal={European Journal of Human Genetics},
  year={2005},
  volume={13},
  pages={1192-1204}
}
Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43 273 prenatal diagnoses over a period of 11 years, 1993–2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212). De novo SMCs were found in 29 pregnancies… CONTINUE READING

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