Article
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
American journal of medical genetics. Part A - 1 Aug 2021
Villela Darine, Mazzonetto Patricia C, Migliavacca Michele P, Perrone Eduardo, Guida Gustavo, Milanezi Maria Fernanda G, Jorge Alexander A L, Ribeiro-Bicudo Lucilene A, Kok Fernando, Campagnari Francine, de Rosso-Giuliani Liane, da Costa Silvia Souza, Vianna-Morgante Angela M, Pearson Peter L, Krepischi Ana C V, Rosenberg Carla
Abstract excerpt
Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities. During the last 15 years, we performed CMA in approximately 8,000 patients with neurodevelopmental and/or congenital disorders, of which...
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