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Cytogenetic analysis of Down syndrome in Libya
I C Verma1, A R Mathews, A Faquih
1Department of Pediatrics, Al Arab University of Medicine, Benghazi, Libya.
Indian Journal of Pediatrics
|March 1, 1990
Summary
Down syndrome occurs in 1 in 516 live births in Libya, with maternal age over 30 being a significant factor. Most cases involve trisomy 21, and 22% have associated congenital abnormalities.
Area of Science:
- Genetics
- Public Health
- Reproductive Medicine
Background:
- Down syndrome is a significant global health concern.
- Understanding the epidemiology of Down syndrome in specific populations is crucial for targeted interventions.
- Libya, as part of the Arab world, presents a unique demographic context for studying Down syndrome.
Purpose of the Study:
- To determine the frequency of Down syndrome in Libya.
- To investigate the role of maternal age in Down syndrome births within the Libyan population.
- To describe the cytogenetic profile and associated congenital abnormalities in Libyan Down syndrome cases.
Main Methods:
- Retrospective analysis of Down syndrome cases in Libya.
- Comparison of maternal age between Down syndrome mothers and a control group.
- Cytogenetic analysis using Giemsa banding for chromosomal characterization.
Main Results:
- The frequency of Down syndrome in Libya was found to be 1 in 516 live births.
- The mean maternal age for Down syndrome births was 35.62 years, with 82% of mothers over 30.
- Trisomy 21 accounted for 96% of cases; other cytogenetic variations included mosaicism and translocations. 22% of cases had associated congenital abnormalities.
Conclusions:
- Maternal age, particularly advanced maternal age, is a significant risk factor for Down syndrome in Libya.
- The cytogenetic profile is similar to global trends, with trisomy 21 being predominant.
- The study highlights the substantial burden of Down syndrome in the region and the need for genetic counseling services.