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Handicap intellectuel : apport de la génétique pour le diagnostic étiologique

Published in Revue médicale suisse. 2018, vol. 14, no. 619, p. 1666-1669
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 AberrationsComparative Genomic HybridizationGenetic CounselingHigh-Throughput Nucleotide SequencingHumansIntellectual Disability/genetics
PMID: 30230775
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Research groups Groupe Giacobino Ariane (génétique) (923)
Traitement et neurobiologie de la dépression (916)
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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. https://archive-ouverte.unige.ch/unige:126802

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Deposited on : 2019-11-22

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