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 …

Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association

BS Marino, PH Lipkin, JW Newburger, G Peacock… - Circulation, 2012 - Am Heart Assoc
Background—The goal of this statement was to review the available literature on
surveillance, screening, evaluation, and management strategies and put forward a scientific …

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] Neurodevelopmental status at eight years in children with dextro-transposition of the great arteries: the Boston Circulatory Arrest Trial

DC Bellinger, D Wypij, LA Rappaport, RA Jonas… - The Journal of thoracic …, 2003 - Elsevier
OBJECTIVES: Our goal was to determine which of the two major methods of vital organ
support used in infant cardiac surgery, total circulatory arrest and low-flow cardiopulmonary …

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 …

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

A Moreno-De-Luca, SM Myers, TD Challman… - The Lancet …, 2013 - thelancet.com
Neurodevelopmental disorders can be caused by many different genetic abnormalities that
are individually rare but collectively common. Specific genetic causes, including certain copy …

Neural development, cell-cell signaling, and the “two-hit” hypothesis of schizophrenia

TM Maynard, L Sikich, JA Lieberman… - Schizophrenia …, 2001 - academic.oup.com
To account for the complex genetics, the developmental biology, and the late
adolescent/early adulthood onset of schizophrenia, the “two-hit” hypothesis has gained …

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 …