Which of the following is a manifestation of 22q11 mutation syndrome?
Chromosome 22q11.2 deletion syndrome encompasses a spectrum of disorders that result from a small deletion of band q11.2 on the long arm of chromosome 22. It is also called as Velocardiofacial syndrome or DiGeorge syndrome It is characterized by Dysmorphogenesis of the 3rd and 4th pharyngeal pouches resulting in following features: C: Cardiac anomaly/cono-truncal anomaly A:Abnormal facies T: Thymic hypoplasia/T cell abnormality C: Cleft palate H: Hypocalcemia 22: Chromosome 22
Hypercalcemia
Conotruncal abnormalities
Thymic hyperplasia
Dysmorphogenesis of the 1st and 2nd pharyngeal pouches
JIPMER 2017