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

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-…

Background The Proteus syndrome is characterized by the overgrowth of skin, connective
tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by …

Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …

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 …

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 …

Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-…

Objectives. This study was designed to determine the frequency of 22q11 deletions in a large,
prospectively ascertained sample of patients with conotruncal defects and to evaluate the …

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 …

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