Article
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
European journal of human genetics : EJHG - 1 Apr 2009
Lyle Robert, Béna 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 E
Abstract excerpt
Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype-phenotype correlations. Cases of partial trisomy 21 and other HSA21 rearrangements associated with DS features could...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 21
- Comparative Genomic Hybridization
- Down Syndrome
- Genotype
- Humans