Genetic analysis of partial duplication of the long arm of chromosome 16.

Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.

Background: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders.

Methods: In this study, we conducted peripheral blood chromosome G-banding karyotyping and whole-exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G-banding karyotyping was also carried out on the proband's parents and brother.

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome.

Effects of PTEN inhibition on the regulation of Tau phosphorylation in rat cortical neuronal injury after oxygen and glucose deprivation.

Objective: This report investigated the involvement of the PTEN pathway in the regulation of Tau phosphorylation using an oxygen and glucose deprivation (OGD) model with rat cortical neurons.

Methods: Primary cortical neurons were used to establish the oxygen and glucose deprivation (OGD) model in vitro. These were randomly divided into control, OGD, bpV+OGD, As+OGD, Se+OGD and Mock treatment groups.

Effect of intrauterine infection on brain development and injury.

Intrauterine exposure of term and premature infants to infection/inflammation may increase the risk of perinatal brain injury, which may be more serious than that incurred by interpartum exposure to hypoxia-ischemia (HI). Many microorganisms, including certain viruses, protozoa, and bacteria, have been linked to this injury. In regard to the mechanisms of intrauterine infection-triggered brain injury, the inflammatory risk factors such as cytokines play a central role.