Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In other cases, they result in non-syndromic neurodevelopme...

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Bibliographic Details
Main Authors: Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Genes
Subjects:
neurodevelopmental delay
<i>BICRA</i>
<i>KPTN</i>
copy number gain
19q13.32q13.33 microduplication
chromosomal microarray analysis
Online Access:https://www.mdpi.com/2073-4425/14/12/2157

Internet

https://www.mdpi.com/2073-4425/14/12/2157

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