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Chimaerism shown by cytogenetics and DNA polymorphism analysis

A J Green¹, D E Barton, P Jenks

¹Department of Clinical Genetics, Addenbrooke's NHS Trust, Cambridge, UK.

Journal of Medical Genetics

|October 1, 1994

Summary

This study reports a rare case of human chimerism in a child with ambiguous genitalia. DNA analysis confirmed the presence of both male and female genetic material, suggesting a fusion of two embryos.

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Area of Science:

Human genetics
Developmental biology
Reproductive medicine

Background:

Ambiguous genitalia presents diagnostic challenges.
Sex chromosome abnormalities can lead to complex phenotypes.
Chimerism, the presence of cells from distinct zygotes, is a rare condition.

Observation:

A phenotypically male child with ambiguous genitalia was found to have a 46,XX/46,XY karyotype.
Surgical examination revealed ovotestis (ovary and testis) and internal female reproductive organs (uterus).
Cellular analysis showed a mixed XX and XY chromosomal complement, with XX cells predominating in skin tissue.

Findings:

DNA polymorphism analysis confirmed the individual was a chimera, possessing genetic material from two different zygotes.

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Evidence of autosomal chimerism was identified alongside sex chromosome chimerism.

The specific genetic markers indicated the presence of both paternal and maternal X chromosomes.

Implications:

This case highlights the utility of DNA polymorphisms in diagnosing and understanding the origins of chimerism.
The findings support the hypothesis that chimerism can arise from the postzygotic fusion of two embryos.
Understanding chimerism is crucial for accurate genetic diagnosis and counseling in cases of DSD (disorders of sex development).