Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review

Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its applicat...

Source: BMC Medical Genomics - February 21, 2024 Category: Genetics & Stem Cells Authors: Qing Lin, Chunya Liang, Bole Du, Lijiao Li, Hong Li, Xiaolan Mai, Sheng Li, Wenyu Xu, Cunzhen Wu and Mi Zeng Tags: Case Report Source Type: research