Herein, we summarize the evidence on the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS. The ...

Individuals with 22q11.2DS exhibit extensive cognitive deficits, both in overall intellectual capacity and focal challenges in executive functioning, ...

Nov 16, 2022 · The 22q11.2 microdeletion and its associated conditions could affect reproductive outcomes but there is limited information on this ...

The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of ...

Therefore, this Special Issue aims to search for studies that may contribute to the genesis of the genetic heterogeneity of the 22q11.2 deletion syndrome and ...

This multicenter study investigates the morphology, dynamic behavior, and presence of intraspinal anomalies in patients with 22q11.2DS and scoliosis compared to ...

Apr 24, 2024 · ... 22q at the Zoo Event Sunday, May 19th, 2024. Organized and developed by The International 22q11.2 Foundation, 22q at the Zoo is an event that ...

What is 22q · 22q at the Zoo — Worldwide... · Talk About 22q · Growth Charts

We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic ...