8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including se...

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Bibliographic Details
Main Authors: Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
8p23.2-pter microdeletion
8p23.3
chromosomal microarray analysis (CMA)
critical microdeletion region (CR)
candidate region
small deletions
Online Access:https://www.mdpi.com/2073-4425/12/5/652

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https://www.mdpi.com/2073-4425/12/5/652

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