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Screening for autosomal aberrations

M Higurashi, M Segawa, I Matsui

    Acta Paediatrica Scandinavica
    |July 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

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    Screening for autosomal aberrations is crucial. Absolutely abnormal dermatoglyphic patterns, combined with mental retardation and malformations, effectively identify patients needing chromosome analysis.

    Area of Science:

    • Genetics
    • Clinical Diagnostics
    • Dermatoglyphics

    Background:

    • Autosomal aberrations require accurate screening methods for timely diagnosis.
    • Dermatoglyphic patterns offer potential indicators for chromosomal abnormalities.
    • Identifying specific dermatoglyphic markers aids in early detection of genetic disorders.

    Purpose of the Study:

    • To evaluate the efficacy of specific dermatoglyphic patterns as screening indicators for autosomal aberrations in patients with malformations and mental retardation.
    • To differentiate between absolutely abnormal and borderline abnormal dermatoglyphic patterns and their correlation with autosomal aberrations.

    Main Methods:

    • Retrospective analysis of 416 patients presenting with malformation, mental retardation, and abnormal dermatoglyphics.

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  • Categorization of dermatoglyphic abnormalities into 'absolutely abnormal' and 'borderline abnormalities'.
  • Correlation of dermatoglyphic findings with karyotype results to determine the presence or absence of autosomal aberrations.

    • Main Results:

    • Out of 416 cases, 308 (74%) exhibited autosomal aberrations.
    • 90.6% of patients with autosomal aberrations showed absolutely abnormal dermatoglyphic patterns.
    • Only 7.4% of patients with normal karyotypes had absolutely abnormal dermatoglyphics; most displayed borderline abnormalities.

    Conclusions:

    • Absolutely abnormal dermatoglyphic patterns, alongside mental retardation and malformations, serve as highly effective clinical indicators for screening autosomal aberrations.
    • The study highlights the diagnostic utility of dermatoglyphics in genetic counseling and chromosome analysis referrals.
    • Distinguishing between types of dermatoglyphic abnormalities refines the screening process for chromosomal disorders.