Article
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
Molecular genetics & genomic medicine - 1 Dec 2021
Kokkonen Hannaleena, Siren Auli, Määttä Tuomo, Kamila Kadlubowska Magda, Acharya Anushree, Nouel-Saied Liz M, Leal Suzanne M, Järvelä Irma, Schrauwen Isabelle
Abstract excerpt
BACKGROUND: Microduplications are a rare cause of disease in X-linked neurodevelopmental disorders but likely have been under reported due challenges in detection and interpretation. METHODS: We performed exome sequencing and subsequent microarray analysis in two families with a neurodevelopmental disorder. RESULTS: Here, we report on two families each with unique inherited microduplications at Xp21.2 and Xq13.1,...
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