Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis

Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis

Background and aims: X-linked ichthyosis (XLI) is a common recessive genetic disease caused by the deletion of steroid sulfatase (STS) in Xp22.31. Maternal copy-number deletions in Xp22.31 (covering STS) can be considered an incidental benefit of genome-wide cell-free DNA profiling. Here, we explore...

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Bibliographic Details
Main Authors: Xinxin Tang, Zhiwei Wang, Shuting Yang, Min Chen, Yue Zhang, Fang Zhang, Juan Tan, Ting Yin, Leilei Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
maternal CNV
STS gene
non-invasive prenatal screening
Xp22.31 microdeletion
prenatal diagnosis
X-linked ichthyosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.934952/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.934952/full

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