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Association of trisomy 9p and band heterotopia

A Federico1, P Tomasetti, M Zollino

  • 1Institute of Neurological Sciences, University of Siena, Italy.

Neurology
|August 3, 1999
PubMed

Insights

Trisomy 9p syndrome patients often have central nervous system (CNS) issues. Routine brain MRI is recommended for all patients with trisomy 9p due to frequent abnormal neuronal migration, including band heterotopia.

Area of Science:

  • Genetics
  • Neurology
  • Medical Imaging

Background:

  • Trisomy 9p syndrome is a chromosomal disorder associated with various clinical manifestations.
  • Central nervous system (CNS) abnormalities are recognized complications of trisomy 9p syndrome.
  • Previous assessments of CNS involvement in trisomy 9p syndrome have been limited.

Observation:

  • This report details a case of trisomy 9p syndrome in a patient presenting with band heterotopia.
  • Band heterotopia, a type of neuronal migration anomaly, was identified via magnetic resonance imaging (MRI).

Findings:

  • Abnormal neuronal migration is a significant and frequent finding in individuals with trisomy 9p syndrome.
  • The observed band heterotopia in the reported patient exemplifies these neuronal migration defects.

Implications:

  • Routine brain MRI screening is advised for all patients diagnosed with trisomy 9p syndrome.
  • Early detection of CNS abnormalities like heterotopia can potentially guide clinical management and prognosis.
  • This highlights the importance of neuroimaging in the comprehensive evaluation of genetic syndromes affecting neurodevelopment.

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