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Related Experiment Videos

Pallister-Killian syndrome diagnosed by chorionic villus sampling.

M Sharland1, L Hill, R Patel

  • 1Department of Genetics, St George's Hospital Medical School, Tooting, London, U.K.

Prenatal Diagnosis
|July 1, 1991
PubMed
Summary

The first prenatal diagnosis of Pallister-Killian syndrome was achieved using chorionic villus sampling. This involved identifying isochromosome 12p mosaicism in a fetus with early-pregnancy hydrops.

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Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Fetal Medicine

Background:

  • Pallister-Killian syndrome (PKS) is a rare genetic disorder.
  • Prenatal diagnosis of PKS is challenging.
  • Isochromosome 12p mosaicism is the characteristic genetic feature of PKS.

Observation:

  • Ultrasound revealed fetal hydrops in early pregnancy.
  • Chorionic villus sampling (CVS) was performed for genetic analysis.
  • Karyotyping of CVS samples identified isochromosome 12p mosaicism.

Findings:

  • This case represents the first documented prenatal diagnosis of Pallister-Killian syndrome via chorionic villus sampling.
  • The combination of fetal hydrops and isochromosome 12p mosaicism on CVS is a key diagnostic indicator.

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  • Early identification of PKS is crucial for management.

    • Implications:

    • This diagnostic approach can enable earlier intervention and genetic counseling for affected families.
    • Improved prenatal detection of PKS can inform clinical management and family planning.
    • Further research into the prenatal ultrasound findings associated with PKS is warranted.