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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Alright as a quick recap, DiGeorge syndrome or 22q11.2 deletion syndrome, is a genetic condition where the q11.2 portion of DNA on chromosome 22 is deleted, which can cause developmental issues like thymic and parathyroid hypoplasia, congenital heart defects, facial abnormalities, mental health conditions, and others.
The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are intellectual disability/learning disability (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43% of patients). [1]
Dementia is a devastating disease that impacts one in 10 older Americans. But while many people want to avoid developing dementia, the exact causes of the condition have remained largely a mystery ...
Also known as “sundowner’s syndrome,” sundowning is a set of symptoms or behaviors that can be seen in some people with Alzheimer’s disease and dementia, according to the Alzheimer’s ...
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
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