[22q11.2 deletion syndrome diagnosed in an adult male]

Abstract

Background: 22q11.2 deletion syndrome is an autosomal dominant syndrome mostly diagnosed in childhood.

Case description: We present a case of a male with a ventricular septum defect, hypoparathyroidism and mild facial abnormalities, in which the diagnosis of 22q11.2 deletion syndrome was made at the age of 42 years.

Conclusion: Because the syndrome has a relatively high prevalence and the clinical presentation can be very diverse, the possibility of 22q11.2 deletion syndrome should also be considered in adult patients. The diagnosis can be confirmed by demonstrating a deletion in the chromosome region 22q11.2. Referral to a clinical geneticist is important, also in adulthood, in order to provide information about the condition and to discuss the risk of recurrence in any children and the consequences for family members.