title: [22q11.2 deletion syndrome diagnosed in an adult male].
abstract: BACKGROUND
  22q11.2 deletion syndrome is an autosomal dominant syndrome mostly diagnosed in childhood.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Erasmus Medisch Centrum, Afd. Interne Geneeskunde, Rotterdam, the Netherlands. r.hassing@erasmusmc.nl
authors: Robert-Jan
authors: RJ
authors: Hassing
authors: Judith M A
authors: JM
authors: Verhagen
authors: Ingrid M B H
authors: IM
authors: van de Laar
authors: Paul L A
authors: PL
authors: van Daele
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics; D008297:Male