Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle, N; Martinet, D; Aboura, A; Joly-Helas, G; Andrieux, J; Flori, E; Puechberty, J; Vialard, F; Sanlaville, D; Fert Ferrer, S; Bourrouillou, G; Tabet, A C; Quilichini, B; Simon-Bouy, B; Bazin, A; Becker, M; Stora, H; Amblard, S; Doco-Fenzy, M; Molina Gomes, D; Girard-Lemaire, F; Cordier, M P; Satre, V; Schneider, A; Lemeur, N; Chambon, P; Jacquemont, S; Fellmann, F; Vigouroux-Castera, A; Molignier, R; Delaye, A; Pipiras, E; Liquier, A; Rousseau, T; Mosca, A L; Kremer, V; Payet, M; Rangon, C; Mugneret, F; Aho, S; Faivre, L; Callier, P

Marle, N; Martinet, D; Aboura, A; Joly-Helas, G; Andrieux, J; Flori, E; Puechberty, J; Vialard, F; Sanlaville, D; Fert Ferrer, S; Bourrouillou, G; Tabet, A C; Quilichini, B; Simon-Bouy, B; Bazin, A; Becker, M; Stora, H; Amblard, S; Doco-Fenzy, M; Molina Gomes, D; Girard-Lemaire, F; Cordier, M P; Satre, V; Schneider, A; Lemeur, N; Chambon, P; Jacquemont, S; Fellmann, F; Vigouroux-Castera, A; Molignier, R; Delaye, A; Pipiras, E; Liquier, A; Rousseau, T; Mosca, A L; Kremer, V; Payet, M; Rangon, C; Mugneret, F; Aho, S; Faivre, L; Callier, P.

Affiliation

Marle N; Département de Génétique, Hôpital Le Bocage, Université de Bourgogne, Dijon, France.

Clin Genet ; 85(3): 233-44, 2014 Mar.

Article in En | MEDLINE | ID: mdl-23489061

Subject(s)

Chromosome Aberrations; Genetic Counseling; Genetic Predisposition to Disease; Prognosis; Adult; Comparative Genomic Hybridization; Female; France; Genetic Association Studies; Genetic Markers; Genome-Wide Association Study; Humans; In Situ Hybridization, Fluorescence; Karyotype; Middle Aged; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; Prospective Studies; Risk; Switzerland; Young Adult

Key words

array-CGH; de novo sSMC; genotype-phenotype correlation; prenatal diagnosis; small supernumerary chromosome marker

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Full text: 1 Database: MEDLINE Main subject: Prognosis / Chromosome Aberrations / Genetic Predisposition to Disease / Genetic Counseling Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies Limits: Adult / Female / Humans / Middle aged / Pregnancy Country/Region as subject: Europa Language: En Year: 2014 Type: Article

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