Mosaic Chromosomal Aneuploidy

Mosaic chromosomal aneuploidy occurs when only a subset of cells carries an abnormal number of chromosomes. Mosaic aneuploidy has been reported in multiple types of diseases. Here we have developed a new sequencing-based approach to identify, characterize and quantify mosaic aneuploidy events in human tissue samples. This ongoing study has begun with results from sequencing data from two clinical patients, one with autism spectrum disorder (ASD) and the other with hemihyperplasia (OMIM 235000). We captured ~100,000 common SNPs from the samples to identify the nature of the mosaic aneuploidy events in each of the samples.]]> Inclusion criteria: samples from patients suspected or known to have mosaic aneuploidy, isolated congenital malformations, skin pigmentary anomalies. Exclusion criteria: none.]]> This study is recent in origin, and was initiated to test a new sequencing-based approach to detect mosaic chromosomal aneuploidy by massively-parallel sequencing. The MADSEQ analytical approach can be used for exome or whole genome sequencing data, or using data from our customized multi-ethnic MAD-seq capture system (meMAD-seq). The goal of the study is to explore a range of clinical presentations to determine how frequently mosaic aneuploidy occurs in human diseases.]]>