ALLMedicine™ Chromosome 22q11.2 Deletion Syndrome Center

Nov 14th, 2021 - Youth with chromosome 22q11.2 deletion syndrome (22q) face one of the highest genetic risk factors for the development of schizophrenia. Previous research suggests impairments in attentional control and potential interactions with elevated anxiety...

Oct 24th, 2021 - Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder associated with multiple congenital anomalies, variable medical features, and neurodevelopmental differences resulting in diverse psychiatric phenotypes, including marked d...

Aug 27th, 2021 - Chromosome 22q11.2 deletion syndrome is a common inborn error of immunity. The early consequences of thymic hypoplasia are low T cell numbers. Later in life, atopy, autoimmunity, inflammation, and evolving hypogammaglobulinemia can occur and the c...

Jul 13th, 2021 - Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the hete...

Jun 19th, 2021 - Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field. We sought to use a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11.2 de...

Jul 18th, 2016 - I'm Donna McDonald-McGinn, a clinical professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania. I'm also director of the 22q and You Center, chief of the Section of Genetic Counseling, and associate director of ...

Apr 29th, 2016 - Chromosomal deletion at 22q11. 2 may increase the risk of Parkinson’s disease, particularly early-onset Parkinson’s disease, according to research published online ahead of print March 23 in the Lancet Neurology.