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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.
A loss of this gene does not appear to cause learning disabilities, however. Other genes in the deleted region are also likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome. 22q11.2 distal deletion syndrome; 22q13 deletion syndrome
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]
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).
2 Signs and symptoms. 3 Cause. 4 Pathology. 5 Diagnosis. ... Chromosomal abnormalities have been identified in PMG such as 22q11.2 deletion (characterised by ...
The KP.3.1.1. variant, the Eris variant…it seems like COVID will never end. Plus, people may be especially aware of symptoms like congestion, headache and fatigue now as we enter the fall and ...
Table 2 summarizes the psychiatric and neurological symptoms associated with PMS. Most of the studies include small samples or relied on parental report or medical record review to collect information, which can account in part for the variability in the presentation of some of the presenting features.