The 22q11. 2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …

Microdeletions within chromosome 22q11. 2 cause a variable phenotype, including
DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of patients …

Chromosome 22, particularly band 22q11. 2, is predisposed to rearrangements due to
misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) …

Velocardiofacial and DiGeorge syndromes, also known as 22q11. 2 deletion syndrome
(22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11. 2 …

Abstract Chromosome 22q11. 21 contains a cluster of low-copy repeats (LCRs), referred to
as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in …

Abstract Chromosome 22q11. 2 deletions are found in almost 90% of patients with
DiGeorge/velocardiofacial syndrome (DGS/VCFS). Large, chromosome-specific low copy …

Purpose Genomic rearrangements of chromosome 22q11. 2, including the microdeletion
associated with DiGeorge/velocardiofacial syndrome, are mediated by nonallelic …

The 22q11. 2 deletion syndrome is commonly diagnosed using fluorescence in situ
hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion …

DiGeorge anomaly (DGA) and velo‐cardiofacial syndrome (VCFS) are frequently associated
with monosomy of chromosome region 22q11. Most patients have a submicroscopic …

Twenty‐one patients, including our two cases, with variable clinical phenotype, ranging from
mild learning disability to severe congenital malformations or overlapping features with …