A case report of the neurocognitive and behavioral phenotype of mosaic trisomy 14

Neurocase. 2018 Oct-Dec;24(5-6):250-254. doi: 10.1080/13554794.2019.1572196. Epub 2019 Feb 4.


Mosaic trisomy 14 is associated with impaired intellectual functioning, although no study has examined the cognitive-behavioral profile associated with the syndrome. This study provides the first case description of the cognitive-behavioral phenotype associated with mosaic trisomy 14 by contrasting the performance an adolescent female (T14) with a group of females with Down syndrome (DS; n=9). T14 performed below age expectations on most direct assessments and demonstrated weaknesses relative to the DS group on aspects of language, adaptive functioning, and executive functioning. T14 also demonstrated strengths in delayed visual recall and social skills relative to the DS group.

Keywords: Cognition; genetic disorder; intellectual disability; neurodevelopment.

Publication types

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

MeSH terms

  • Child
  • Chromosomes, Human, Pair 14
  • Down Syndrome / physiopathology
  • Executive Function / physiology*
  • Female
  • Humans
  • Intellectual Disability / physiopathology*
  • Language*
  • Mental Recall / physiology*
  • Mosaicism
  • Phenotype
  • Social Skills*
  • Trisomy / physiopathology*

Supplementary concepts

  • Chromosome 14, trisomy mosaic