Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
ContributorsLyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; Lopez, Gipsy; Schinzel, Albert; Lespinasse, James; Bottani, Armand; Dahoun, Sophie; Taine, Laurence; Doco-Fenzy, Martine; Cornillet-Lefèbvre, Pascale; Pelet, Anna; Lyonnet, Stanislas; Toutain, Annick; Colleaux, Laurence; Horst, Jürgen; Kennerknecht, Ingo; Wakamatsu, Nobuaki; Descartes, Maria; Franklin, Judy C.; Florentin-Arar, Lina; Kitsiou, Sophia; Aït Yahya-Graison, Emilie; Costantine, Maher; Sinet, Pierre-Marie; Delabar, Jean M.; Antonarakis, Stylianos
Published inEuropean journal of human genetics, vol. 17, no. 4, p. 454-466
Publication date2009
Abstract
Keywords
- Abnormalities, Multiple/genetics
- Chromosome Deletion
- Chromosomes, Human, Pair 21/genetics
- Comparative Genomic Hybridization
- Down Syndrome/genetics
- Genotype
- Humans
- Phenotype
- Trisomy/genetics
Citation (ISO format)
LYLE, Robert et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. In: European journal of human genetics, 2009, vol. 17, n° 4, p. 454–466. doi: 10.1038/ejhg.2008.214
Main files (1)
Article (Published version)
Identifiers
- PID : unige:5576
- DOI : 10.1038/ejhg.2008.214
- PMID : 19002211
ISSN of the journal1018-4813