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 …

[HTML][HTML] Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome

S Oskarsdottir, E Boot, TB Crowley, JCY Loo… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

LA Jerome, VE Papaioannou - Nature genetics, 2001 - nature.com
The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human
disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the …

A population-based study of the 22q11. 2 deletion: phenotype, incidence, and contribution to major birth defects in the population

LD Botto, K May, PM Fernhoff, A Correa… - …, 2003 - publications.aap.org
Objectives. Although several studies describe the 22q11. 2 deletion, population-based data
are scant. Such data are needed to evaluate properly the impact, distribution, and clinical …

Chromosome 22q11. 2 deletion syndrome and DiGeorge syndrome

KE Sullivan - Immunological Reviews, 2019 - Wiley Online Library
Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …

22q11. 2 deletion syndrome and congenital heart disease

E Goldmuntz - American Journal of Medical Genetics Part C …, 2020 - Wiley Online Library
Abstract The 22q11. 2 deletion syndrome has an estimated prevalence of 1 in 4–6,000
livebirths. The phenotype varies widely; the most common features include: facial …

Developmental trajectories in 22q11. 2 deletion syndrome

A Swillen, D McDonald‐McGinn - American Journal of Medical …, 2015 - Wiley Online Library
Chromosome 22q11. 2 deletion syndrome (22q11. 2DS), a neurogenetic condition, is the
most common microdeletion syndrome affecting 1 in 2,000–4,000 live births and involving …

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

LK Paul - Journal of neurodevelopmental disorders, 2011 - Springer
This review provides an overview of the involvement of the corpus callosum (CC) in a variety
of developmental disorders that are currently defined exclusively by genetics …

The 22q11. 2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms

JAS Vorstman, MEJ Morcus, SN Duijff… - Journal of the American …, 2006 - Elsevier
OBJECTIVE: To examine psychopathology and influence of intelligence level on psychiatric
symptoms in children with the 22q11. 2 deletion syndrome (22q11DS). METHOD: Sixty …

[HTML][HTML] Phenotype of the 22q11. 2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

DM Mcdonald-Mcginn, MK Tonnesen… - Genetics in …, 2001 - Elsevier
Abstract Purpose The chromosome 22q11. 2 deletion has been identified in the majority of
patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face …