Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children

Psychiatr Genet. 2020 Oct;30(5):136-140. doi: 10.1097/YPG.0000000000000259.


Background: Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a deviation from the normal number of copies of a given gene segment. CNVs are implicated in many neuropsychiatric disorders. Deletions of the human chromosomal region 16p11.2 are one of the most common genetic linkages to autism spectrum disorders (ASD). However, ASD is not the only presenting feature, and many patients with 16p11.2 deletions present with a variable clinical spectrum.

Methods: To better understand the nature and presentation of the syndrome throughout development, we present three different, unrelated clinical cases of children with 16p11.2 deletion and provide a detailed description of their clinical manifestations.

Results: Cognitive and motor impairments were characteristic of all three patients with 16p11.2 deletion, despite the differences in the extent and clinical presentation of impairment. Two patients had a clinical diagnosis of ASD and one showed several ASD traits. In addition, two patients also had severe speech and language impairments, which is in line with previous reports on 16p11.2 phenotypes. Although epilepsy and obesity have been frequently associated with 16p11.2 deletion, only one patient had a diagnosis of epilepsy and none of the three cases were obese.

Conclusion: This variation in clinical phenotype renders correct clinical interpretation and diagnosis challenging. Therefore, it is critical to elucidate the variable clinical phenotypes of rare CNVs, including 16p11.2 deletions, to help guide clinical monitoring and counselling of patients and families.

Publication types

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

MeSH terms

  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / physiopathology
  • Autistic Disorder / genetics*
  • Autistic Disorder / physiopathology*
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / physiopathology*
  • Chromosomes, Human, Pair 16 / genetics
  • DNA Copy Number Variations / genetics
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology*
  • Male
  • Phenotype

Supplementary concepts

  • 16p11.2 Deletion Syndrome