Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients

Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).

Palavras-chave

Anomalias Congénitas Múltiplas Perturbação Autística Deficiência Intelectual

URI

http://hdl.handle.net/10400.4/2075

Citação

Mol Cytogenet. 2015 Dec 30;8:103. d

DOI

10.1186/s13039-015-0202-z

Coleções

PED - Artigos
GEN - Artigos

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