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

• Main Authors: Qing Lin (Author), Chunya Liang (Author), Bole Du (Author), Lijiao Li (Author), Hong Li (Author), Xiaolan Mai (Author), Sheng Li (Author), Wenyu Xu (Author), Cunzhen Wu (Author), Mi Zeng (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 application has gradually expanded from chromosome aneuploidy to CNV. Few prena...