Article
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Genes - 9 Mar 2023
Smyk Marta, Geremek Maciej, Ziemkiewicz Kamila, Gambin Tomasz, Kutkowska-Kaźmierczak Anna, Kowalczyk Katarzyna, Plaskota Izabela, Wiśniowiecka-Kowalnik Barbara, Bartnik-Głaska Magdalena, Niemiec Magdalena, Grad Dominika, Piotrowicz Małgorzata, Gieruszczak-Białek Dorota, Pietrzyk Aleksandra, Crowley T Blaine, Giunta Victoria, McGinn Daniel E, Zackai Elaine H, Tran Oanh, Emanuel Beverly S, McDonald-McGinn Donna M, Nowakowska Beata A
Abstract excerpt
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the presence of additional variants affecting the phenotype, we performed microarray in 82 prenatal and 77 postnatal cases...
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