Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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The cytogenetic analysis of probands was performed with a result of normal male karyotypes (46,XY). The microarray analysis on oligonucleotide 180K CGH+SNP microarray platform was then indicated resulting in a detection of a 8q24.23q24.3 duplication (694 kb) in both probands. The family-based real-time PCR confirmed this CNV in both probands and their unaffected mother. Based on the information obtained from databases mentioned above it was classified as likely benign.
|Illumina Genome Analyzer||2|