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Related Experiment Videos

The Liverpool chimaera.

I M Bromilow1, J Duguid

  • 1Mersey Regional Blood Transfusion Service, Liverpool, UK.

Vox Sanguinis
|January 1, 1989
PubMed
Summary
This summary is machine-generated.

A rare fertile female XX/XY chimaera was identified through antenatal testing. This dispermic human chimaera presented with distinct red blood cell populations and mixed karyotypes in lymphocytes and skin cells.

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Area of Science:

  • Human genetics
  • Reproductive biology
  • Cell biology

Background:

  • Human chimerism, the presence of two distinct cell populations originating from different zygotes, is a rare phenomenon.
  • Dispermic chimerism arises from the fusion of two zygotes, leading to a single individual with genetically distinct cell lines.
  • Understanding chimerism is crucial for reproductive medicine and genetic counseling.

Observation:

  • A fertile female XX/XY chimaera was discovered incidentally during routine antenatal testing.
  • The patient exhibited two distinct red blood cell populations, differing in ABO, Rh, and MN blood group systems.
  • Karyotype analysis revealed a mosaicism: 70% of cultured lymphocytes were 46, XY (male), and 30% of cultured skin cells were 46, XY (male).

Findings:

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  • The case presents a unique instance of a fertile XX/XY human chimaera.
  • The presence of two cell populations with different karyotypes (XX and XY) in a phenotypically female individual is confirmed.
  • The chimerism was detected through blood group discrepancies and confirmed by cytogenetic analysis.

    • Implications:

    • This case expands the understanding of human chimerism and its potential for fertility.
    • It highlights the importance of genetic and cytogenetic investigations in cases of unexplained variations.
    • Further research into XX/XY chimeras can provide insights into sex determination and development.