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Related Experiment Videos

Turner/Down mosaicism. A case report.

S Jansen1, A J Kruger, G Liebenberg

  • 1Department of Neurology, University of the Orange Free State, Bloemfontein, R.S.A.

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|June 15, 1991
PubMed
Summary
This summary is machine-generated.

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This study reports a rare case of mosaic Down syndrome (47,XX,+21) and Turner syndrome (45,X) in a young girl. The findings suggest that cell proportions in mosaicism may not always dictate the severity of Down syndrome symptoms.

Area of Science:

  • Genetics
  • Human genetics
  • Cytogenetics

Background:

  • Mosaicism, a condition where an individual has cells with different genetic makeup, can present complex diagnostic challenges.
  • Down syndrome (Trisomy 21) and Turner syndrome (45,X) are distinct aneuploid conditions with unique clinical manifestations.
  • Understanding the impact of mixed aneuploidies is crucial for accurate diagnosis and prognosis.

Observation:

  • A case study of a young girl exhibiting clinical features suggestive of Down syndrome.
  • Karyotyping revealed a mosaicism of 45,X/47,XX,+21, with 80% of cells being 45,X and 20% being 47,XX,+21.
  • Peripheral lymphocyte analysis was used to determine the cellular proportions.

Findings:

  • The patient presented with clinical features of Down syndrome despite a lower percentage of trisomic cells (47,XX,+21).

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  • The proportion of 45,X cells did not correlate with a milder phenotype, challenging typical expectations in mosaic conditions.
  • The study provides a potential explanation for the co-occurrence of these two distinct aneuploidies.

    • Implications:

    • This case highlights the complexity of genotype-phenotype correlations in conditions involving double aneuploidy.
    • It suggests that the distribution and origin of aneuploid cell lines might influence phenotypic expression.
    • Further research into the mechanisms underlying double aneuploidy and mosaicism is warranted for improved clinical management.