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Related Experiment Videos

Tetrasomy 12p--unusual presentation in CVS.

L Dong1, R E Falk, J Williams

  • 1Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, 8723 Allen Drive, SSB 363, Los Angeles, California, USA.

Prenatal Diagnosis
|February 8, 2003
PubMed
Summary
This summary is machine-generated.

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Chorionic villus sampling (CVS) can detect mosaicism for supernumerary isochromosomes, but further testing like amniocentesis and FISH is crucial for accurate diagnosis. This case highlights the complexity of interpreting CVS results for chromosomal abnormalities.

Area of Science:

  • Cytogenetics
  • Prenatal Diagnosis
  • Genetics

Background:

  • Chorionic villus sampling (CVS) is a common prenatal diagnostic tool.
  • Direct CVS preparations have limitations in detecting structural chromosomal abnormalities.
  • G-banding analysis of direct CVS revealed mosaic trisomy 21.

Observation:

  • Subsequent CVS culture and amniocentesis identified an extra F-group chromosome, specifically an isochromosome of the short arm of chromosome 12 [i(12)(p10)].
  • This abnormality is associated with Pallister-Killian syndrome.
  • FISH analysis confirmed the presence of i(12)(p10) in amniocytes and a marker chromosome in CVS.

Findings:

  • The final karyotype from amniocentesis was 47,XY,+i(12)(p10)[12]/46,XY[8].
  • Re-analysis of the CVS direct preparation using FISH confirmed mosaicism for a supernumerary marker chromosome [47,XY,+mar[5]/46,XY[6]].

Related Experiment Videos

  • The marker chromosome was identified as i(12)(p10) using FISH.

    • Implications:

    • Accurate diagnosis of chromosomal abnormalities often requires multiple testing methods, including CVS, amniocentesis, and FISH.
    • Mosaicism for supernumerary isochromosomes can have a complex origin and requires careful evaluation.
    • This case underscores the importance of comprehensive cytogenetic analysis in prenatal diagnosis.