7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability

Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dim...

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Bibliographic Details
Main Authors: Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Genes
Subjects:
copy number variants (CNVs)
neurodevelopmental disorders
microduplication
microdeletion
<i>CNTNAP2</i>
<i>CHRNA7</i>
Online Access:https://www.mdpi.com/2073-4425/11/5/525

Internet

https://www.mdpi.com/2073-4425/11/5/525

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