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

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. Epstein CJ : Down syndrome (trisomy 21); in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill, 2001, pp 1223–1256.

2. Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S : Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004; 5: 725.

3. Korenberg JR, Bradley C, Disteche CM : Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet 1992; 50: 294.

4. Sinet PM, Theophile D, Rahmani Z et al: Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level. Biomed Pharmacother 1994; 48: 247.

5. Korenberg JR, Chen XN, Schipper R et al: Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994; 91: 4997.

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