[DiGeorge syndrome diagnosed in a 39-year old woman with chronic hypocalcemia]

A 39 year-old woman was diagnosed with DiGeorge's syndrome based on newly diagnosed hypocalcaemia, appearance and history. The patient had congenital cardiovascular malformations, mild mental retardation and ear malformations, and during infancy and childhood suffered from failure to thrive and frequent infections. In children with conotruncal heart malformation, hypocalcaemia and hypoplasia of the thymus in combination it is estimated that chromosome 22q11 deletion is present in almost 100%. The syndrome is probably underdiagnosed.