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Article

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.

BMC medical genomics - 24 Dec 2014

D'Amours Guylaine, Langlois Mathieu, Mathonnet Géraldine, Fetni Raouf, Nizard Sonia, Srour Myriam, Tihy Frédérique, Phillips Michael S, Michaud Jacques L, Lemyre Emmanuelle

Abstract excerpt

BACKGROUND: Molecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy number variation (CNV) in 10-14% of them. High-resolution microarrays combining molecular karyotyping and single nucleotide polymorphism (SNP) genotyping were recently introduced to the market. In...

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Identifiers

PMID: 25539807
DOI: 10.1186/s12920-014-0070-0
PMCID: PMC4299176

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