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 …

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 …

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 …

[图书][B] Hereditary hearing loss and its syndromes

RJ Gorlin, HV Toriello - 1995 - books.google.com
This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic
Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to …

[图书][B] Genetics and mental retardation syndromes: A new look at behavior and interventions.

EM Dykens, RM Hodapp, BM Finucane - 2000 - psycnet.apa.org
This guide identifies characteristics of 9 specific genetic mental retardation syndromes. Four
major syndromes—Down, Williams, fragile X, and Prader-Willi—are covered with …

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 …

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 …

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 …

The 22q11. 2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan

RK Jonas, CA Montojo, CE Bearden - Biological psychiatry, 2014 - Elsevier
Evidence is rapidly accumulating that rare, recurrent copy number variants represent large
effect risk factors for neuropsychiatric disorders. 22q11. 2 deletion syndrome (22q11DS) …

22q11 deletion syndrome: a genetic subtype of schizophrenia

AS Bassett, EWC Chow - Biological psychiatry, 1999 - Elsevier
Schizophrenia is likely to be caused by several susceptibility genes and may have
environmental factors that interact with susceptibility genes and/or nongenetic causes …