Article
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
European journal of human genetics : EJHG - 1 Nov 2009
Gijsbers Antoinet C J, Lew Janet Y K, Bosch Cathy A J, Schuurs-Hoeijmakers Janneke H M, van Haeringen Arie, den Hollander Nicolette S, Kant Sarina G, Bijlsma Emilia K, Breuning Martijn H, Bakker Egbert, Ruivenkamp Claudia A L
Abstract excerpt
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...
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