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Article

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

Genes - 29 Nov 2023

Guadagnolo Daniele, Mastromoro Gioia, Torres Barbara, Marchionni Enrica, di Palma Francesca, Goldoni Marina, Cocciadiferro Dario, Novelli Antonio, Bernardini Laura, Pizzuti Antonio

Abstract excerpt

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 neurodevelopmental disorders, often acting as moderate-penetrance risk factors, possibly inherited from unaffected parents. We...

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PMID: 38136979
DOI: 10.3390/genes14122157
PMCID: PMC10742575

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