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A CATCH-22 Situation.
Catch 22 Syndrome
22q11 deletion or CATCH
22 is associated
with DiGeorge syndrome,
conotruncal anomaly face
syndrome, and velocardiofacial
CATCH 22 syndrome is a medical acronym for multiple abnormalities, especially cardiac defect .
[CATCH 22 syndrome: Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.]
C = Cardiac defects,
The following Cardiovascular anomalies may be present -
Ventricular septal defect ; pulmonary atresia ; Fallot's tetralogy ; aortic valve stenosis ; atrial septal defect ; tricuspid atresia ; hypoplastic left heart syndrome ; persisting ductus arteriosus ; pulmonary valve stenosis ; complete (third degree) atrioventricular block ; Ebstein's anomaly, tachycardia and enlarged right atrium.
A = Abnormal facies,
T = Thymic hypoplasia,
C =Cleft palate, and
The basic embryological fault in these disorders is an inadequate development of the facial neural crest tissues, resulting in defective organogenesis of pharyngeal pouch derivatives.
In chromosome 22q11 deletion syndrome, a small deletion of band 11 of the long arm of chromosome 22 is best seen by fluorescence in situ hybridization.
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