Professional article
Open access

Handicap intellectuel : apport de la génétique pour le diagnostic étiologique

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

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.

  • 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.
Main files (1)
Article (Published version)
ISSN of the journal1660-9379

Technical informations

Creation11/22/2019 11:29:00 AM
First validation11/22/2019 11:29:00 AM
Update time03/15/2023 6:25:37 PM
Status update03/15/2023 6:25:36 PM
Last indexation08/30/2023 9:43:43 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack