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Professional article
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French

Handicap intellectuel : apport de la génétique pour le diagnostic étiologique

Published inRevue médicale suisse, vol. 14, no. 619, p. 1666-1669
Publication date2018
Abstract

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.

Keywords
  • Chromosome Aberrations
  • Comparative Genomic Hybridization
  • Genetic Counseling
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability/genetics
Citation (ISO format)
JOUAN, Chrystel et al. Handicap intellectuel : apport de la génétique pour le diagnostic étiologique. In: Revue médicale suisse, 2018, vol. 14, n° 619, p. 1666–1669.
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Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal1660-9379
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