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 …

Neurodevelopmental outcomes in children with congenital heart disease—what can we impact?

G Wernovsky, DJ Licht - Pediatric Critical Care Medicine, 2016 - journals.lww.com
Objectives: The objectives of this review are to discuss the scope of neurologic injuries in
newborns with congenital heart disease, the mechanisms of injury, including prenatal, pre …

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 (DiGeorge syndrome/velocardiofacial syndrome)

DM McDonald-McGinn, KE Sullivan - Medicine, 2011 - journals.lww.com
Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …

[HTML][HTML] 22q11. 2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

M Karayiorgou, TJ Simon, JA Gogos - Nature Reviews Neuroscience, 2010 - nature.com
Recent studies are beginning to paint a clear and consistent picture of the impairments in
psychological and cognitive competencies that are associated with microdeletions in …

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11. 2 deletion syndromes

LJ Kobrynski, KE Sullivan - The Lancet, 2007 - thelancet.com
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in
common a high frequency of hemizygous deletions of chromosome 22q11. 2. This deletion …

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

IM Campbell, SE Sheppard, TB Crowley… - American Journal of …, 2018 - Wiley Online Library
22q11. 2 deletion syndrome (22q11. 2DS) is a disorder caused by recurrent, chromosome‐
specific, low copy repeat (LCR)–mediated copy‐number losses of chromosome 22q11. The …

The 22q11 deletion syndromes

PJ Scambler - Human molecular genetics, 2000 - academic.oup.com
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been
described in association with deletions and translocations involving human chromosome …

[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 …

The catechol-O-methyl transferase (COMT) gene as a candidate for psychiatric phenotypes: evidence and lessons

N Craddock, MJ Owen, MC O'Donovan - Molecular psychiatry, 2006 - nature.com
The enzyme catechol-O-methyl transferase (COMT), identified in the 1950s, is involved in
catabolism of monoamines that are influenced by psychotropic medications, including …