22q11. 2 deletion syndrome

DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion …

M Schneider, M Debbané, AS Bassett… - American Journal of …, 2014 - Am Psychiatric Assoc
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 …

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie… - Genome …, 2009 - genome.cshlp.org
We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort …

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

S Kondo, BC Schutte, RJ Richardson, BC Bjork… - Nature …, 2002 - nature.com
Abstract 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 …

Microduplications of 16p11. 2 are associated with schizophrenia

SE McCarthy, V Makarov, G Kirov, AM Addington… - Nature …, 2009 - nature.com
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11. 2 have been implicated in childhood-onset developmental disorders,,. We report the …

[HTML][HTML] A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

MJ Lindhurst, JC Sapp, JK Teer… - … England Journal of …, 2011 - Mass Medical Soc
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 …

A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay

S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci… - Nature …, 2010 - nature.com
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 …

Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis

TH Shaikh, H Kurahashi, SC Saitta… - Human molecular …, 2000 - academic.oup.com
The 22q11. 2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

DJ Marsh, JB Kum, KL Lunetta… - Human molecular …, 1999 - academic.oup.com
Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …

Frequency of 22q11 deletions in patients with conotruncal defects

E Goldmuntz, BJ Clark, LE Mitchell, AF Jawad… - Journal of the American …, 1998 - jacc.org
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 …