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

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

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss‐of‐function variant in X‐linked MECP2. Here, we report a rare case of a girl with RTT with an X chromosome mosaic karyotype (46,XX/47,XXX). Methods Fluorescent in situ hyb...

Full description

Bibliographic Details
Main Authors: Satoru Takahashi, Ryo Takeguchi, Mami Kuroda, Ryosuke Tanaka
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
MECP2
mosaicism
Rett syndrome
X chromosome aneuploidy
X chromosome inactivation
Online Access:https://doi.org/10.1002/mgg3.1122

Similar Items

Similar Items