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

Objective Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated
with high rates of schizophrenia and other psychiatric conditions. The authors report what is to …

Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as DiGeorge
syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 births, and the …

Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share
a highly conserved helix–turn–helix DNA-binding domain and a less conserved protein-…

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via …

Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS)
and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from …

The underlying basis of many forms of syndromic craniosynostosis has been defined on a
molecular level. However, many patients with familial or sporadic craniosynostosis do not …

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

A submicroscopic deletion of chromosome 22q11. 2 has been identified in the majority of
patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in …