22q11.2 deletion syndrome
Updates to Article Attributes
Body
was changed:
22q11.2 deletion syndrome, also known as the DiGeorge syndrome or velocardiofacial syndrome, is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but a recognisable pattern of physical and behavioural features.
Epidemiology
The estimated incidence is at ~ 1 in 4000 live pregnancies 4.
Clinical presentation
CATCH 22 is the mnemonic to remember the chromosome and all the abnormalities.
- cleft lip +/- palate
- congenital heart disease (particularly conotruncal anomalies): often a major part of this syndrome
- characteristic facies
- elongated face
- short philtrum
- facial asymmetry
- prominent nose
- hypernasal speech
- learning disabilities
- decreased immunity
- malformation of third and fourth pharyngeal pouches that result in the defective development of the parathyroid and thymus which can, in turn, lead to
Pathology
Genetics
There is a near-universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations. 22q11 deletions are associated with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.
Associations
History and etymology
First described in 1968 by Angelo DiGeorge (1921-2009), an American physician.
-<li><a href="/articles/hypocalcaemia">hypocalcaemia</a></li>- +<li><a href="/articles/hypocalcaemia">hypocalcemia</a></li>
Unable to process the form. Check for errors and try again.