[Intellectual disability: contribution of genetic studies to the etiological diagnosis].

Rev Med Suisse

Service de médecine génétique, Département de médecine génétique, de laboratoire et de pathologie, HUG, 1211 Genève 14.

Published: September 2018

The multidiscipinary care of patients with intellectual disability requires a structured and systematic etiological process. Today, advances in technology make it possible to perform diagnostic genetic analyzes that are highly contributive in this process. The CGH-array (Comparative Genomic Hybridization array) makes it possible to search for chromosomal anomalies with a very high level of resolution; high throughput sequencing can detect gene abnormalities on the whole exome or on a panel of genes. For the patient the detection of genetic anomalies aims to improve the quality of care; for related parties, genetic counseling is systematically offered.

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