Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

Bayram ToramanSamiye Çilem BilginerSelma Tural HesapçıoğluZeynep GökerHüseyin Okan SoykamBekir ErgünerTuba DinçerGökhan YıldızSerbülent ÜnsalBurak Kaan KasapSema KandilErsan Kalay

Published in: The journal of gene medicine (2021)

Genetic etiologies of ASD should be analyzed comprehensively by taking into account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns.

Keyphrases

autism spectrum disorder
copy number
mitochondrial dna
genome wide
attention deficit hyperactivity disorder
intellectual disability
dna methylation
gene expression