Non-Invasive Detection of a De Novo Frameshift Variant of <i>STAG2</i> in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females

Non-Invasive Detection of a De Novo Frameshift Variant of <i>STAG2</i> in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females

Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) revealed a de novo frameshift variant of the X-...

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Bibliographic Details
Main Authors: Aldesia Provenzano, Andrea La Barbera, Francesco Lai, Andrea Perra, Antonio Farina, Ettore Cariati, Orsetta Zuffardi, Sabrina Giglio
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Journal of Clinical Medicine
Subjects:
X-linked diseases
non-invasive whole exome sequencing
fetal cell-free DNA
escapee genes
X-inactivation
Online Access:https://www.mdpi.com/2077-0383/11/14/4182

Internet

https://www.mdpi.com/2077-0383/11/14/4182

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