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Partial trisomy 22 with Dandy-Walker malformation.

Y Katafuchi1, K Hashino, Y Maeno

  • 1Department of Pediatrics, Kurume University School of Medicine, Japan.

Acta Paediatrica Japonica : Overseas Edition
|October 1, 1990
PubMed
Summary
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Partial trisomy 22, often from 11q;22q translocation, causes developmental delays. A new case reveals Dandy-Walker malformation as a previously undocumented neurological feature in this condition.

Area of Science:

  • Genetics
  • Developmental Biology
  • Neurology

Background:

  • Partial trisomy 22 is frequently caused by 3:1 meiotic segregation of the 11q;22q translocation.
  • This genetic condition is associated with common neurological issues like delayed psychomotor development and hypotonia.

Observation:

  • Previous neuroradiologic studies have noted ventricular dilatation, arrhinencephaly, and agenesis of the corpus callosum and pons.
  • This report details a patient with partial trisomy 22 exhibiting typical neurological findings.

Findings:

  • The patient presented with Dandy-Walker malformation, a complex brain malformation.
  • This finding is novel and has not been previously described in association with partial trisomy 22.

Implications:

Related Experiment Videos

  • This expands the known spectrum of brain abnormalities associated with partial trisomy 22.
  • Further research is warranted to understand the genetic and developmental mechanisms linking 11q;22q translocation to Dandy-Walker malformation.