This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

This review aimed to update the clinical practice guidelines for managing adults with 22q11.
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …

Abstract The 22q11. 2 deletion syndrome has an estimated prevalence of 1 in 4–6,000
livebirths. The phenotype varies widely; the most common features include: facial …

Single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal testing (NIPT) can
currently predict a subset of submicroscopic abnormalities associated with severe clinical …

Progress in characterizing and predicting psychotic illness in 22q11. 2DS supports this
identifiable subpopulation as a molecular model with important implications for …

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …

Background Chromosomal microarray analysis (CMA) provides an opportunity to
understand genetic causes of congenital heart disease (CHD). The methods for describing …

This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes
the clinical presentation and underlying genetic causes of the nonsurgical forms. We …

Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common
terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the …

The 22q11. 2 Deletion Syndrome (22q11. 2DS) is the most common microdeletion
syndrome with an estimated prevalence of 1: 4,000 live births. 22q11. 2DS is known to have …