Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

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–phenoty...

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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986205/
https://ncbi.nlm.nih.gov/pubmed/19002211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.214
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