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

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 prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling.

Case presentation

A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS). Multiple congenital malformations, hydrocephalus, and enlarged gallbladder were observed by prenatal ultrasound. Amniocentesis revealed the karyotype of t

SUBMITTER: Lin Q 

PROVIDER: S-EPMC10880359 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature