Publications by authors named "Wenshan Zeng"
Article Synopsis
- Partial 17q duplication is a rare chromosome abnormality linked to severe developmental issues, intellectual disabilities, and physical anomalies.
- A case study presented a 7-year-old boy with several health problems, including developmental delays and malformations, and his aborted older brother also exhibited similar abnormalities.
- The findings provide insights into the clinical characteristics and fetal implications of 17q25 microduplication related to a maternal genetic translocation.
Article Synopsis
- - **Recurrent implantation failure (RIF) is a significant issue in assisted reproductive technology and may be influenced by endometrial factors like ferroptosis and immunity.**
- - **The study utilized bioinformatics and Mendelian randomization to analyze differentially expressed ferroptosis-related genes (DEFRGs), identifying 11 key DEFRGs linked to RIF.**
- - **Machine learning models highlighted MUC1, GJA1, and FANCD2 as potential biomarkers for RIF, with further validation in patients reinforcing the study's findings and suggesting FANCD2's protective role against RIF.**
Background: Synonymous variants are non-pathogenic due to non-substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing. Splicing variants are easily analyzed at RNA level for genes expressed in blood cells.
View Article and Find Full Text PDFResearch Question: Do cytosine-guanine-guanine (CGG) repeats of the FMR1 gene affect ovarian function, ovarian response and assisted reproductive technology (ART) outcomes in Chinese women?
Design: A retrospective cohort study of 5869 women who underwent 8932 ART cycles at Women's Hospital, School of Medicine, Zhejiang University between January 2018 and June 2021. Basic hormone level, oocyte yield, embryo quality and the rate of live birth were considered as main outcome measures to evaluate the effects of CGG repeats on ovarian function, ovarian response and ART outcomes.
Results: The CGG repeats were negatively related to serum anti-Müllerian hormone (AMH), oestradiol, antral follicle count (AFC) and oocyte yield.
[Prenatal diagnosis and genetic analysis of three fetuses with duodenal atresia or stenosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2023
Objective: To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography.
Methods: Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis.
Background: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. A diagnosis of the Walker-Warburg syndrome depends on the clinical manifestations and the whole-exome sequencing after birth, which is unfavorable for an early diagnosis.
Methods: Walker-Warburg Syndrome was suspected in two families with severe fetal congenital hydrocephalus.