Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

doi:10.1002/mgg3.1056

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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

Molecular genetics & genomic medicine - 1 Jan 2020

Catusi Ilaria, Recalcati Maria Paola, Bestetti Ilaria, Garzo Maria, Valtorta Chiara, Alfonsi Melissa, Alghisi Alberta, Cappellani Stefania, Casalone Rosario, Caselli Rossella, Ceccarini Caterina, Ceglia Carlo, Ciaschini Anna Maria, Coviello Domenico, Crosti Francesca, D'Aprile Annamaria, Fabretto Antonella, Genesio Rita, Giagnacovo Marzia, Granata Paola, Longo Ilaria, Malacarne Michela, Marseglia Giuseppina, Montaldi Annamaria, Nardone Anna Maria, Palka Chiara, Pecile Vanna, Pessina Chiara, Postorivo Diana, Redaelli Serena, Renieri Alessandra, Rigon Chiara, Tiberi Fabiola, Tonelli Mariella, Villa Nicoletta, Zilio Anna, Zuccarello Daniela, Novelli Antonio, Larizza Lidia, Giardino Daniela

Abstract excerpt

BACKGROUND: Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developmental phenotypic findings to improve the array-based detection rate. METHODS: The Italian Society of Human Genetics coordinated a retrospective study which included...

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PMID: 31851782
DOI: 10.1002/mgg3.1056
PMCID: PMC6978242

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