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

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 hybridizat...

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Detalles Bibliográficos
Autores principales: Takahashi, Satoru, Takeguchi, Ryo, Kuroda, Mami, Tanaka, Ryosuke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057091/
https://www.ncbi.nlm.nih.gov/pubmed/31943886
http://dx.doi.org/10.1002/mgg3.1122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057091/
https://www.ncbi.nlm.nih.gov/pubmed/31943886
http://dx.doi.org/10.1002/mgg3.1122

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