Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

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 …

The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …

DiGeorge syndrome (DGS), also known as" 22q11. 2 deletion syndrome"(22q11DS)(MIM#
192430# 188400), is a genetic disorder caused by hemizygous microdeletion of the long …

The 22q11. 2 deletion is one of the most common genetic microdeletions, affecting
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …

Objectives To evaluate various clinical aspects, specifically regarding immune status, in a
large cohort of patients with DiGeorge syndrome. Study design Data were collected for 98 …

Purpose: Young children with 22q11. 2 deletion syndrome (22q11DS) often have impaired
language development and poor speech intelligibility. Here, we report a comprehensive …

Several copy number variants (CNVs) have been identified to confer high risk for a range of
neuropsychiatric conditions. Because of advances in genetic testing within clinical settings …

The most frequent microdeletion, 22q11. 2 deletion syndrome (22q11. 2DS), has a wide and
variable phenotype that causes difficulties in diagnosis. 22q11. 2DS is a contiguous gene …

Tonsillectomy is one of the most common procedures performed in children, however there
are currently no published studies evaluating tonsillectomy in children with 22q11. 2 …