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Episode 6: 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome, or 22q for short, is a genetic syndrome affecting between 1 in 2000 and 1 in 4000 people.

There are a wide range of health issues associated with the syndrome, such as heart conditions and immune problems, palatal defects and speech delays. It can also cause developmental problems and learning disabilities, and increased risk of a range of mental health problems, including schizophrenia, ADHD and depression.

To tell us more about 22q, we’re joined by Professor Marianne van den Bree, a Principal Investigator at Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics.

We also get a parent perspective from Katie and Jon, whose daughter Ivy was diagnosed with 22q last year.

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Research papers mentioned during this episode

  • Niarchou, M.; Zammit, S.; van Goozen, S. H.; Thapar, A.; Tierling, H. M.; Owen, M. J.; van den Bree, M. B., Psychopathology and cognition in children with 22q11.2 deletion syndrome. Br J Psychiatry 2014, 204 (1), 46-54.
  • Chawner, S. J. R. A.; Doherty, J. L.; Moss, H. M.; Niarchou, M.; J.T.R., W.; Owen, M. J.; van den Bree, M. B. M., Childhood cognitive development in 22q11.2 deletion syndrome: case-control study. Br J Psychiatry 2017, 211 (4), 223-230.
  • Niarchou, M.; Martin, J.; Thapar, A.; Owen, M. J.; van den Bree, M. B., The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 2015, 168 (8), 730-8.
  • Cunningham, A. C.; Delport, S.; Cumines, W.; Busse, M.; Linden, D. E. J.; Hall, J.; Owen, M. J.; van den Bree, M. B. M., Developmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome. Br J Psychiatry 2018, 212 (1), 27-33.
  • Monks, S.; Niarchou, M.; Davies, A. R.; Walters, J. T.; Williams, N.; Owen, M. J.; van den Bree, M. B.; Murphy, K. C., Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome. Schizophr Res 2014, 153 (1-3), 231-6.
  • Chawner, S.; Niarchou, M.; Doherty, J. L.; Moss, H.; Owen, M. J.; van den Bree, M. B. M., The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. J Psychiatr Res 2018, 109, 10-17.
  • van den Bree, M. B.; Miller, G.; Mansell, E.; Thapar, A.; Flinter, F.; Owen, M. J., The internet is parents’ main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS). European journal of medical genetics 2013.

Help with 22q research at Cardiff University

To find out more about taking part in the ECHO study you can contact or phone 029 2068 8354.

Links and resources


National Centre for Mental Health, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ

+44 (0)29 2068 8401
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