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Comment & Response
May 17, 2017

Lessons to be Learned From 22q2.11 Syndromes—Reply

Author Affiliations
  • 1Department of Clinical Immunology, the Blood Bank, Rigshospitalet, University Hospital of Copenhagen, Denmark
  • 2iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Lundbeck, Denmark
  • 3Centre for Integrated Register-Based Research, Aarhus University, Aarhus, Denmark
  • 4National Centre for Register-Based Research, Aarhus University, Business and Social Sciences, Aarhus, Denmark
  • 5Institute of Biological Psychiatry, Mental Health Centre Sct Hans, Copenhagen University Hospital, Roskilde, Denmark
  • 6Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
JAMA Psychiatry. Published online May 17, 2017. doi:10.1001/jamapsychiatry.2017.0837

In Reply We are grateful to Vann Jones for his interest and most relevant commentary to our populationwide study on the risk of psychiatric disorders among individuals with the 22q11.2 deletion and duplication.1

We agree with Vann Jones that the neuropsychiatric symptoms and the pleiotropic nature of the 22q11.2 deletion and of other large recurrent copy number variations seem to challenge the diagnostic classification systems that may poorly capture the clinical manifestations of these syndromes. However, it can be argued that the same is true for the diverse clinical presentations in idiopathic cases of schizophrenia, for example. It is also true that highly penetrant disease mutations, such as copy number variations, seem to offer unique possibilities to study biomarkers and pathological mechanisms, and numerous laboratories, including our own, are pursuing this hypothesis.

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