With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

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 Background 22q11. 2 deletion syndrome (22q11DS), a copy number variation
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …

Objective. Multiple genetic syndromes are caused by recurrent chromosomal microdeletions
or microduplications. The increasing use of high‐resolution microarrays in clinical analysis …

Abstract Although 22q11. 2 deletion syndrome (22q11. 2DS) is the most recurrent human
microdeletion syndrome associated with a highly variable phenotype, little is known about …

Abstract Background Individuals affected with DiGeorge and Velocardiofacial syndromes
present with both phenotypic diversity and variable expressivity. The most frequent clinical …

LCR22s are among the most complex loci in the human genome and are susceptible to
nonallelic homologous recombination. This can lead to a variety of genomic disorders …

The 22q11 deletion syndrome, which is caused by a 1.5-to 3.0-megabase hemizygous
deletion in chromosome 22q11. 2, has a prevalence of 1/2000 to 1/4000. However, the …

Despite the heterogeneous clinical presentations, the majority of patients with 22q11. 2
deletion syndrome (22q11. 2 DS) have either a common recurrent 3 Mb deletion or a less …

Abstract The majority (99%) of individuals with 22q11. 2 deletion syndrome (22q11. 2DS)
have a deletion that is caused by non-allelic homologous recombination between two of four …