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Articles linked to this work by shared authors, journal, and citation graph.

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The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site Study.

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Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

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Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.

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Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

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Related Experiment Video

Updated: Jan 6, 2026

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Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review.

Nikolai Gil D Reyes1,2,3,4, Daniel G Di Luca2,5, Connie Marras2

  • 1Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Movement Disorders Clinical Practice
|December 3, 2025
PubMed
Summary
This summary is machine-generated.

Movement disorders are increasingly recognized in 22q11.2 microdeletion syndrome. Research highlights an expanding spectrum of motor phenotypes, with gaps in understanding their causes and treatments.

Keywords:
22q11.2 deletion syndrome22q11.2 microdeletionmotor dysfunctionmovement disorder

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Area of Science:

  • Neurology
  • Genetics
  • Movement Disorders

Background:

  • 22q11.2 microdeletion syndrome affects 1 in 2000 live births.
  • Movement disorders are emerging as significant neurological manifestations.

Purpose of the Study:

  • To review evidence on movement disorders in 22q11.2 microdeletion.
  • Identify gaps in diagnosis, treatment, and etiopathogenesis.
  • Provide research recommendations.

Main Methods:

  • Comprehensive literature search (MEDLINE, Embase, CENTRAL).
  • Included clinical and preclinical studies.
  • Summarized data on clinical features, risk factors, and pathophysiology.

Main Results:

  • 43 studies reviewed (41 clinical, 2 preclinical).
  • Parkinsonism is common, but other motor phenotypes are emerging.
  • Non-specific neuroimaging; promising biomarkers identified.
  • Complex etiologies beyond medication side effects.

Conclusions:

  • Evidence supports a broad spectrum of motor phenotypes in 22q11.2 microdeletion.
  • Clinical markers and risk modifiers are emerging.
  • Addressing research gaps requires improved designs, diagnostics, and collaboration.