Rubinstein-Taybi syndrome (RTS) is a rare genetic condition mostly caused by new mutations, while 22q11.2 deletion syndrome is a common chromosomal deletion linked to schizophrenia.
A 38-year-old male diagnosed with RTS exhibited psychotic symptoms, but genetic testing revealed he actually had the 22q11.2 deletion.
Treatment with risperidone alleviated his psychotic symptoms, suggesting a need for genetic analysis to better understand psychiatric issues in patients with RTS-like symptoms.