Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities

ABSTRACT: This study includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in children with ID/DD, ASD and MCA. We identified a broad range of pathogenic/likely pathogenic CNVs as well as variants of unclear significance and likely benign variants. Our results confirm the benefit of array-CGH in the current clinical genetic diagnostics through the identification of genetic cause of ID/DD in the high proportion of affected children.

ORGANISM(S): Homo sapiens

SUBMITTER: Marketa Wayhelova 

PROVIDER: E-MTAB-8044 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress