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Trisomy 18 in monozygotic twins.

A F Mulder1, J van Eyck, F Groenendaal

  • 1Department of Obstetrics and Gynaecology, Academic Hospital Rotterdam, The Netherlands.

Human Genetics
|October 1, 1989
PubMed
Summary

This study details a rare case of identical twins both diagnosed with trisomy 18, but with differing congenital malformations. It highlights the influence of non-genetic factors on twin development and prenatal diagnosis accuracy.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Maternal-Fetal Medicine

Background:

  • Monozygotic twins share identical genetic material.
  • Trisomy 18 (Edwards syndrome) is a severe chromosomal disorder.
  • Discordance in congenital anomalies among identical twins suggests environmental or epigenetic influences.

Observation:

  • A rare case of monozygotic twins diagnosed with trisomy 18 is presented.
  • The twins exhibited significant discordance in major congenital malformations.
  • This discordance occurred despite identical genetic makeup.

Findings:

  • The case supports the hypothesis that non-genetic factors play a crucial role in the etiology of congenital malformations in genotypically identical twins.
  • Nongenetic factors can influence phenotypic expression even in the presence of a shared genetic abnormality like trisomy 18.

Implications:

  • Accurate prenatal ultrasound is vital for identifying trisomy 18 and associated anomalies.
  • Improved ultrasonic examination can aid in appropriate birth planning, potentially reducing unnecessary Cesarean sections for trisomy 18 infants.
  • Understanding discordance factors can inform genetic counseling and management strategies for affected twin pregnancies.

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