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Related Experiment Videos

[The ring chromosome 14 syndrome].

I Kristensen1, C Wieg, U K Friedrich

  • 1Børneafdelingen, Herning Centralsygehus.

Ugeskrift for Laeger
|November 9, 1992
PubMed
Summary
This summary is machine-generated.

Ring chromosome 14 syndrome can present subtly, but epilepsy is a key indicator. Genetic testing is crucial for children with unexplained intellectual disability and treatment-resistant seizures.

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Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Ring chromosome 14 syndrome is a rare chromosomal disorder.
  • It is characterized by a ring structure of chromosome 14.

Observation:

  • Two children with ring chromosome 14 were studied.
  • Both exhibited few overt physical features of chromosomal abnormality.

Findings:

  • Epilepsy was a prominent symptom in both children, consistent with ring chromosome 14 syndrome.
  • Phenotypical features were minimal, underscoring the diagnostic challenge.

Implications:

  • Chromosome examination should be considered in children with refractory epilepsy and mental retardation.
  • Early diagnosis of ring chromosome 14 syndrome can guide management and genetic counseling.