Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations
Prenatal Diagnosis2014Vol. 35(1), pp. 35–43
Citations Over TimeTop 22% of 2014 papers
Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, Sylvie Jaillard, Jérôme Toutain, Marie‐Laure Maurin, José Antonio Martínez-Conejero, Claire Bénéteau, Aurélie Coussement, Denise Molina‐Gomes, Nina Horelli‐Kuitunen, Azzedine Aboura, Anne‐Claude Tabet, Justine Besseau-Ayasse, Bettina Bessieres‐Grattagliano, Giuseppe Simoni, Gustavo Ayala, Brigitte Benzacken, François Vialard
Abstract
We discuss the complexity of genetic counseling for microduplication 22q11.2 and comment on possible explanations for the clinical heterogeneity of this syndrome. In particular, we assessed the co-existence of additional CNVs and their contribution to phenotypic variations in chromosome 22q11.2 microduplication syndrome.
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