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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2009
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Article
オンライン･アクセス: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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