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English

Genomic determinants in the phenotypic variability of Down syndrome

Contributors

Letourneau, Audrey; Antonarakis, Stylianos

Published in

Progress in brain research, vol. 197, p. 15-28

Publication date

2012

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

UNIGE affiliation entities

UNIGE research groups

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

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

0079-6123
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Technical informations

Creation

14/02/2014 17:40:00

First validation

14/02/2014 17:40:00

Update

30/03/2023 10:19:16

Status update

30/03/2023 10:19:15

Last indexation

30/10/2024 16:26:27
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