A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

@article{Gijsbers2009AND,
  title={A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first},
  author={Antoinet C. J. Gijsbers and Janet YK Lew and C. J. Bosch and Janneke H M Schuurs-Hoeijmakers and Arie van Haeringen and Nicolette S. den Hollander and Sarina G. Kant and Emilia K. Bijlsma and Martijn H. Breuning and Egbert Bakker and Claudia A. L. Ruivenkamp},
  journal={European Journal of Human Genetics},
  year={2009},
  volume={17},
  pages={1394-1402}
}
High-density single-nucleotide polymorphism (SNP) genotyping technology enables extensive genotyping as well as the detection of increasingly smaller chromosomal aberrations. In this study, we assess molecular karyotyping as first-round analysis of patients with mental retardation and/or multiple congenital abnormalities (MR/MCA). We used different commercially available SNP array platforms, the Affymetrix GeneChip 262K NspI, the Genechip 238K StyI, the Illumina HumanHap 300 and HumanCNV 370… CONTINUE READING
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