Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.

Hannaleena KokkonenAuli SirenTuomo MäättäMagda Kamila KadlubowskaAnushree AcharyaLiz M Nouel-SaiedRegie Lyn P Santos-Cortez Irma Järvelä Isabelle Schrauwen

Published in: Molecular genetics & genomic medicine (2021)

In conclusion, we show that comprehensive clinical and genetic examination of microduplications on the X-chromosome can be helpful in undiagnosed cases of neurodevelopmental disease.

Keyphrases

copy number
genome wide
congenital heart disease
gene expression
bioinformatics analysis
dna methylation