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Related Experiment Videos

Dermatoglyphics in mosaic Down's syndrome.

J H Priest, P V Tishler, B Rosner

    Clinical Genetics
    |April 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Quantitative dermal indices can help identify mosaic Down's syndrome (DS) and correlate with the proportion of trisomy 21 cells. However, their diagnostic value is limited in general screening due to intermediate scores in normal individuals.

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    Area of Science:

    • Genetics
    • Dermatology
    • Medical Diagnostics

    Background:

    • Mosaic Down's syndrome (DS) presents a diagnostic challenge due to varying levels of trisomy 21 cells.
    • Quantitative dermal indices are explored for their potential in assessing DS liability and severity.

    Purpose of the Study:

    • To evaluate the utility of quantitative dermal indices in diagnosing mosaic Down's syndrome.
    • To correlate dermatoglyphic patterns with the genetic makeup of mosaic DS individuals.

    Main Methods:

    • Dermatoglyphics of 107 subjects with 46/47,+21 DS were analyzed using four quantitative dermal indices.
    • Statistical analyses, including weighted regression, were employed to assess correlations.

    Main Results:

    Related Experiment Videos

  • The distribution of quantitative dermal indices in mosaic DS subjects fell between normal and full DS ranges.
  • 73% of mosaic DS individuals were classified as definitively DS, 21% intermediate, and 6% normal.
  • A significant correlation (P < 0.001) was found between dermal index score and the proportion of +21 cells.

    • Conclusions:

    • Dermal scores in the DS range are highly suggestive of karyotypic abnormality in suspected mosaic DS cases.
    • Intermediate dermal scores in normal subjects limit their screening utility for mosaic DS in the general population.
    • The correlation allows prediction of +21 cell ratios, offering insights into DS severity and underlying genetic factors.