Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

@inproceedings{Anguiano2010SpectralKF,
  title={Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory},
  author={Arturo L Anguiano and Biyun. Wang and Shirong R Wang and Fatih Z Boyar and Loretta W Mahon and Mohamed M El Naggar and Peter H. Kohn and Mary H. Haddadin and Vladimira Sulcova and Adam H Sbeiti and Mervat S Ayad and Beverly J. White and Charles M. Strom},
  booktitle={Molecular Cytogenetics},
  year={2010}
}
Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal) submitted for spectral karyotyping. Over 90% of the cases were… CONTINUE READING

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