Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior

Gene. 2015 Apr 10;560(1):124-7. doi: 10.1016/j.gene.2015.02.010. Epub 2015 Feb 7.

Abstract

This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69Mbp duplicated segment in this patient includes the critical 9p duplication syndrome region, the GLDC and C90RF72 genes associated with psychotic behavior and other conduct disorders, and a potential locus for autism.

Keywords: 9p duplication syndrome; Autism; Psychosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Duplication*
  • Chromosomes, Human, Pair 9 / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • Karyotyping
  • Psychotic Disorders / diagnosis
  • Psychotic Disorders / genetics*
  • Trisomy / genetics*
  • Young Adult

Supplementary concepts

  • Chromosome 9, partial trisomy 9p