en
Professional article
English

Genomic determinants in the phenotypic variability of Down syndrome

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
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)
accessLevelRestricted
Identifiers
ISSN of the journal0079-6123
40views
0downloads

Technical informations

Creation14.02.2014 17:40:00
First validation14.02.2014 17:40:00
Update time30.03.2023 10:19:16
Status update30.03.2023 10:19:15
Last indexation16.01.2024 09:21:06
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack