Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Eur J Pediatr. 2010 Aug;169(8):983-9. doi: 10.1007/s00431-010-1161-3. Epub 2010 Feb 26.


Patients with the 22q11.2 deletion syndrome display a wide phenotypic variation that is important for clinical follow-up. In this national survey of 60 patients (ages 1 to 54 years) diagnosed by Fluorescence in situ hybridization test, data were collected from medical records, a physical examination, and a semistructured interview. Ultrasound investigation of the kidneys was also performed. In addition, multiplex ligation probe amplification assay was performed to detect deletion size. Phenotypic features leading to the genetic diagnosis were noted. The patients showed a variety of organ malformations including 39 with heart anomalies. Only 20 individuals had been diagnosed with 22q11.2 DS in the first year of life. Four patients had renal and five males had genital malformations. The increased infection susceptibility (excluding otitis media) and most feeding difficulties subsided during early childhood. Speech difficulties started early and were a major problem for many patients at least until 10 years of age. Ten patients developed kyphoscoliosis in late childhood. In teenagers and adults, abnormal social behavior, learning disabilities, and psychiatric symptoms dominated. Our study which also includes adult patients emphasizes a marked change in challenges in individuals with the 22q11.2 deletion syndrome with increasing age.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / diagnostic imaging
  • DiGeorge Syndrome / epidemiology
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / physiopathology
  • Fluorescence
  • Gene Deletion*
  • Genitalia / abnormalities
  • Humans
  • In Situ Hybridization
  • Infant
  • Infections / epidemiology
  • Kidney / abnormalities
  • Kidney / diagnostic imaging
  • Learning Disabilities / epidemiology
  • Male
  • Medical Records
  • Middle Aged
  • Norway / epidemiology
  • Phenotype
  • Ultrasonography
  • Young Adult