Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.

Satoru TakahashiRyo TakeguchiMami KurodaRyosuke Tanaka

Published in: Molecular genetics & genomic medicine (2020)

The present results indicate that phenotypic effects of X chromosome aneuploidy depend on the nature of the supernumerary X chromosome, the pattern of mosaicism, and XCI status.

Keyphrases

copy number
gene expression
genome wide