Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders

Abstract Background The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy number variations (CNVs). In this study, we present data on the frequency and spectrum of CNVs on t...

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Bibliographic Details
Main Authors: Ekaterina N. Tolmacheva, Anna A. Kashevarova, Elizaveta A. Fonova, Olga A. Salyukova, Gulnara N. Seitova, Lyudmila P. Nazarenko, Anna A. Agafonova, Larisa I. Minaycheva, Ekaterina G. Ravzhaeva, Valeria V. Petrova, Maria E. Lopatkina, Elena O. Belyaeva, Svetlana L. Vovk, Dmitry A. Fedotov, Oksana Y. Vasilyeva, Nikolay A. Skryabin, Igor N. Lebedev
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Molecular Cytogenetics
Subjects:
CNV
Neurodevelopmental disorders
X-linked intellectual disability
X chromosome inactivation
UBE2A
OFD1
Online Access:https://doi.org/10.1186/s13039-025-00703-w

Internet

https://doi.org/10.1186/s13039-025-00703-w

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