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March 10, 2024

[Analysis of X chromosome inactivation and prenatal diagnosis for a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3].

Xuejun Chen Weiguo Zhang

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Abstract

To explore the correlation between skewed X chromosome inactivation (XCI) and clinical phenotype of a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3.

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Cite This Study

Chen et al. (2024) studied this question.

synapsesocial.com/papers/68e74cd0b6db6435876c542b https://doi.org/10.3760/cma.j.cn511374-20221224-00889

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease2024 · 7 citations
2Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populationsRetrospective Study · 2026
3[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].2024 · 1 citations
4[Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome].2024
5Single-cell X-chromosome inactivation analysis links biased chimerism to differential gene expression and epigenetic erosion2024

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