Publications by authors named "Shao-quan Shi"
[Prenatal diagnosis of a fetus in a family with mandibulofacial dysostosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2010
Article Synopsis
- - The study aimed to evaluate the use of comparative genomic hybridization (array-CGH) for diagnosing mandibulofacial dysostosis in a fetus identified through prenatal ultrasound.
- - The research involved collecting amniotic fluid and blood samples, with conventional cytogenetic analysis showing no abnormalities, but array-CGH revealing a duplication in a specific gene region (1p36.33) linked to cartilage development.
- - The identification of the genes VWA1 and PYGO2 through array-CGH was confirmed with RT-qPCR, ultimately leading to a postnatal diagnosis of mandibulofacial dysostosis.