Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

Transl Psychiatry. 2020 Jan 28;10(1):42. doi: 10.1038/s41398-020-0725-x.


The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adult
  • Attention Deficit Disorder with Hyperactivity*
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 15 / genetics
  • DNA Copy Number Variations
  • Female
  • Humans
  • Intellectual Disability* / genetics
  • Psychotic Disorders* / genetics