Article
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability.
Genes - 31 Mar 2021
Milone Roberta, Scalise Roberta, Pasquariello Rosa, Berloffa Stefano, Ricca Ivana, Battini Roberta
Abstract excerpt
Syndromic intellectual disability often obtains a genetic diagnosis due to the combination of first and next generation sequencing techniques, although their interpretation may require revaluation over the years. Here we report on a composite neuropsychiatric case whose phenotype includes moderate intellectual disability, spastic paraparesis, movement disorder, and bipolar disorder, harboring a 1.802 Mb de novo...
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