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Down syndrome in Kuwait.

S A al-Awadi1, T I Farag, A S Teebi

  • 1Kuwait Medical Gentics Centre, Maternity Hospital, Safat.

American Journal of Medical Genetics. Supplement
|January 1, 1990
PubMed
Summary
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This study analyzed 635 cases of Down syndrome, finding that regular trisomy 21 (Down syndrome) is the most common form. Frequencies of chromosome aberrations in this cohort align with global Down syndrome cytogenetic surveys.

Area of Science:

  • Genetics
  • Human Genetics
  • Cytogenetics

Background:

  • Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
  • Karyotype analysis is crucial for understanding the genetic basis of Down syndrome and its variations.
  • Previous cytogenetic surveys have established baseline frequencies for different types of Down syndrome karyotypes.

Purpose of the Study:

  • To analyze the frequency of different karyotypes in a cohort of 635 confirmed Down syndrome cases.
  • To compare the observed frequencies of chromosome aberrations with those reported in major international Down syndrome cytogenetic surveys.
  • To provide updated data on the prevalence of trisomy 21, translocations, mosaicism, and nonclassical karyotypes in Down syndrome.

Main Methods:

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  • Retrospective analysis of cytogenetic data from 635 Down syndrome cases diagnosed between 1980 and 1986.
  • Karyotyping was performed to identify the specific chromosome abnormality.
  • Statistical comparison of the study's findings with aggregated data from large-scale global cytogenetic surveys.

    • Main Results:

    • Regular trisomy 21 (47,+21) accounted for 96.2% of cases in the study cohort.
    • Translocations, mosaicism, and nonclassical karyotypes represented 1.9%, 1.4%, and 0.5% of cases, respectively.
    • Comparison with global surveys (17,738 cases) showed similar patterns: regular trisomy 21 (92.9%), translocations (4.3%), mosaicism (2.2%), and nonclassical karyotypes (0.5%).

    Conclusions:

    • Regular trisomy 21 is the predominant karyotype in Down syndrome.
    • The observed frequencies of chromosome aberrations in this study are consistent with international findings.
    • Cytogenetic analysis remains essential for accurate diagnosis and understanding the genetic heterogeneity of Down syndrome.