Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady

摘要

We report a 32 year-old Chinese lady with history of tetralogy of Fallot,presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism.With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study.Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease,facial dysmorphism,intellectual disability and primary hypoparathyroidism.