17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability

17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability

The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All patients share some spec...

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Bibliographic Details
Main Authors: Federica Saia, Adriana Prato, Caterina Angela Florio, Vincenzo Paolo Cutrone, Renata Rizzo
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Reports
Subjects:
17q21.31 microduplication
genetic syndrome
psychomotor delay
intellectual disability
autism spectrum disorder
Online Access:https://www.mdpi.com/2571-841X/6/3/30

Internet

https://www.mdpi.com/2571-841X/6/3/30

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