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16p11.2 Microduplication and associated symptoms: A case study

Martin Knoll1, Kirsten Arnett1, Jeremy Hertza2

  • 1a Department of Clinical Psychology , University of South Carolina , Aiken , South Carolina.

Applied Neuropsychology. Child
|May 24, 2017
PubMed

Insights

The 16p11.2 microduplication can cause developmental delays and health issues like seizures. This study highlights the need for better testing and tracking of this genetic condition.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • Chromosomal microduplications and microdeletions are understudied areas of genomics.
  • The 16p11.2 microduplication is linked to various cognitive, physical, and emotional symptoms.
  • Understanding these variations is crucial for diagnosing and managing complex conditions.

Observation:

  • This study details the biological basis of the 16p11.2 microduplication.
  • It reviews existing literature connecting the microduplication to clinical diagnoses and impairments.
  • A case study of an adolescent African-American female with the 16p11.2 microduplication is presented.

Findings:

  • The case study highlights intellectual and developmental delays in the patient.
  • Associated health complications included seizures, a potentially compromised immune system, anxiety, and depression.
  • Neurocognitive assessment results corroborated the reported delays.

Implications:

  • The findings underscore the need for improved protocols for testing and monitoring 16p11.2 microduplication effects.
  • Early implementation of specific tests, like immunosorbent assays, is suggested for associated symptoms.
  • Further research is required to fully understand the genomic influence and symptom development.
Keywords:
Case studycognitionmicroduplication

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