A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.

Luna Bajracharya Meena Lall Sunita Bijarnia MahayPraveen KumarImran MushtaqPushpa SaviourPreeti PaliwalAnju JoshiShruti AgarwalPraveen Suman

Published in: Case reports in genetics (2023)

This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.

Keyphrases

rare case
genome wide
autism spectrum disorder
copy number
mental health
intellectual disability
smoking cessation
gene expression
hiv infected