Genomic determinants in the phenotypic variability of Down syndrome

Letourneau, Audrey; Antonarakis, Stylianos

doi:10.1016/B978-0-444-54299-1.00002-9

Professional article

English

Genomic determinants in the phenotypic variability of Down syndrome

ContributorsLetourneau, Audrey; Antonarakis, Stylianos

Published inProgress in brain research, vol. 197, p. 15-28

Publication date2012

Abstract

Down syndrome caused by trisomy 21 is a collection of phenotypes with variable expressivity and penetrance. The significant advances in exploring the human genome now provide the tools to better understand the contribution of trisomy 21 in the different manifestations of Down syndrome, and the functional links between the genome variability and the phenotypic variability.

Keywords

Chromosomes, Human, Pair 21
Down Syndrome/genetics
Genetic Variation
Genomics/methods
Genotype
Humans
Phenotype

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)

Citation (ISO format)

LETOURNEAU, Audrey, ANTONARAKIS, Stylianos. Genomic determinants in the phenotypic variability of Down syndrome. In: Progress in brain research, 2012, vol. 197, p. 15–28. doi: 10.1016/B978-0-444-54299-1.00002-9

Article (Published version)

Identifiers

PID : unige:34645
DOI : 10.1016/B978-0-444-54299-1.00002-9
PMID : 22541286

ISSN of the journal0079-6123

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Genomic determinants in the phenotypic variability of Down syndrome

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