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Abnormal development of 3rd and 4th pharyngeal pouches due to deletion of gene at location 22q11.2

CATCH 22

Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism

22q11.2 deletion

 

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