Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

摘要: Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of variations in clinical population. During last decade, implementation array CGH resulted new causative submicroscopic chromosome imbalances and copy number (CNVs) neuropsychiatric (neurobehavioral) diseases. Currently, array-CGH-based technologies have become an integral part molecular diagnosis research individuals with disorders children intellectual disability (mental retardation) congenital anomalies. Here, we introduce Russian cohort disability, autism, epilepsy anomalies analyzed by BAC novel bioinformatic strategy. Among 54 highly selected according criteria cytogenetic data (from 2426 patients evaluated cytogenetically molecularly between November 2007 May 2012), chromosomal were detected 26 (48%). In two (4%), previously undescribed condition was observed. The latter designated as meiotic (constitutional) instability multiple rearrangements (including CNVs). Using strategy, able identify clinically relevant CNVs 15 (28%). Selected cases confirmed genetic methods. Eight out (31%) not reported. them, three co-occurrence subtle 9 21 deletions. We conducted study suffering from total, phenotypic manifestations found result affecting 1247 disease-causing pathway-involved genes. Obviously, significantly lesser them are true candidates autism or epilepsy. success our preliminary allows us expand cohort. According available literature, this is first comprehensive evaluation