Article
De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Journal of medical genetics - 1 Nov 2011
Hehir-Kwa Jayne Y, Rodríguez-Santiago Benjamín, Vissers Lisenka E, de Leeuw Nicole, Pfundt Rolph, Buitelaar Jan K, Pérez-Jurado Luis A, Veltman Joris A
Abstract excerpt
BACKGROUND: De novo mutations and structural rearrangements are a common cause of intellectual disability (ID) and other disorders with reduced or null reproductive fitness. Insight into the genomic and environmental factors predisposing to the generation of these de novo events is therefore of significant clinical importance. METHODS: This study used information from single nucleotide polymorphism microarrays to...
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