30JUN

Welcome To Mediterr J Med Med Sci

Manuscripts are accepted for consideration with the understanding that they represent original material and are not being considered for publication elsewhere. The editors welcome the submission of relevant articles for editorial consideration. Manuscripts and all scientific and professional data should be addressed to the Editor-in-Chief (fmosherif@yahoo.com, f.sherif@uot.edu.ly).

Mediterranean Journal of Medicine and Medical Sciences
https://mmj.org.ly/article/doi/10.5281/zenodo.21834147

Mediterranean Journal of Medicine and Medical Sciences

Original article Molecular biology

Down syndrome in Eastern Libya: Cytogenetic subtypes, age at diagnosis, and maternal age in a five-year series

Tarek M. Shoeib, Abdelmuhsen M. Abusneina, Fatma H. Boshahma

Downloads: 1
Views: 9

Abstract

Down syndrome is the most common autosomal aneuploidy, but its cytogenetic subtypes and the age at which it is diagnosed have not been well described for eastern Libya. This study characterized the Down syndrome cases within a five-year cytogenetic registry, with attention to subtype distribution, age at diagnosis, and maternal age. This study analyzed the Down syndrome cases identified among all karyotype referrals to the Genome Laboratory, Benghazi, in 2021-2025, the subset of a 319-record registry whose overall cytogenetic profile is reported separately. Karyotypes were classified per ISCN as free trisomy 21, translocation, or mosaic. Maternal age was compared between Down syndrome and other referred patients using the Mann-Whitney U-test; proportions are given with 95.0% confidence intervals (CIs). 58 patients had Down syndrome (23.1% of 251 karyotyped referrals; 31 male, 27 female). Free trisomy 21 accounted for 54 cases (93.1%; 95.0% CI 83.6-97.3), translocation for three (5.2%), and mosaicism for one (1.7%). Diagnosis was early: The median age at karyotyping was 0.10 years (about five weeks), and 50 of 56 patients with a recorded age (89.3%) were diagnosed before their first birthday. The median maternal age was 37.0 years (interquartile range 31-41), with 58.6% of mothers aged 35 years or older; maternal age was higher than among other referred patients (median 31.0 years; p = 0.008). The subtype distribution matched international and earlier Libyan data and differed from a recent Benghazi series that reported markedly higher mosaicism. Thus, in eastern Libya, Down syndrome is predominantly free trisomy 21, is strongly associated with advanced maternal age, and, unlike the sex-chromosome aneuploidies, is recognized early, usually within the first year of life. These findings support maternal-age-based counseling while indicating that neonatal recognition of trisomy 21 is already effective locally.

Keywords

Age at diagnosis, Down syndrome, maternal age, karyotype, trisomy 21

References

  1. Bull MJ. Down syndrome. The New England Journal of Medicine. 2020; 382(24): 2344-2352. doi: 10.1056/ NEJMra1706537
  2. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome. Nature Reviews Disease Primers. 2020; 6(1): 9. doi: 10.1038/s41572-019-0143-7
  3. Chen L, Wang L, Wang Y, Hu H, Zhan Y, Zeng Z, Liu L. Global, regional, and national burden and trends of Down syndrome from 1990 to 2019. Frontiers in Genetics. 2022; 13: 908482. doi: 10.3389/fgene.2022.908482
  4. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. European Journal of Human Genetics. 2021; 29(3): 402-410. doi: 10.1038/s41431-020-00748-y
  5. Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age-specific live birth prevalence of Down's syndrome. Journal of Medical Screening. 2002; 9(1): 2-6. doi: 10.1136/jms.9.1.2
  6. Sullivan KD, Lewis HC, Hill AA, Pandey A, Jackson LP, Cabral JM, et al. Trisomy 21 consistently activates the interferon response. eLife. 2016; 5: e16220. doi: 10.7554/eLife.16220
  7. Verma IC, Mathews AR, Faquih A, El-Zouki AA, Malik GR, Mohammed F. Cytogenetic analysis of Down syndrome in Libya. Indian Journal of Pediatrics. 1990; 57(2): 245-248. doi: 10.1007/BF02722095
  8. Elmagrpy Z, Rayani A, Shah A, Habas E, Aburawi EH. Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience? Cardiovascular Journal of Africa. 2011; 22(6): 306-309. doi: 10.5830/CVJA-2010-072
  9. Ghawil M, Muftah K, Doggah M. Thyroid disorders in Libyan patients with Down syndrome. Libyan Journal of Medical Research. 2021; 15(2): 62-68. doi: 10.54361/ljmr.15203
  10. Alqahtani YA, Shati AA, Alshaikh AA, Alshahrani AT, Bin Qaed SA, Alqahtani MA, et al. Prevalence, spectrum, and management of thyroid dysfunction in children with Down syndrome: A retrospective study from Southern Saudi Arabia. Children (Basel). 2026; 13(1): 6. doi: 10.3390/children13010006
  11. Amer AH, Boshahma FH, Shoeib T, Khaled R, Salem K, Mustafa M, Issa F. Types of Down syndrome disorders diagnosed at the First International Laboratory from 2020 to 2025. Libyan Journal of Medical Research. 2026; 20(1): 250-254. doi: 10.54361/LJMR.20.1.40
  12. McGowan-Jordan J, Hastings RJ, Moore S, editors. ISCN 2020: An International System for Human Cytogenomic Nomenclature (2020). Basel: Karger, 2020. ISBN 978-3-318-06706-4.
  13. Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2023 Aarhus International Turner Syndrome Meeting. European Journal of Endocrinology. 2024; 190(6): G53-G151. doi: 10.1093/ejendo/lvae050
  14. Zitzmann M, Aksglaede L, Corona G, Isidori AM, Juul A, T'Sjoen G, et al. European Academy of Andrology guidelines on Klinefelter syndrome. Andrology. 2021; 9(1): 145-167. doi: 10.1111/andr.12909
  15. Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K, Gravholt CH. Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47, XXX and 47, XYY syndrome: A nationwide cohort study. Orphanet Journal of Rare Disease. 2019;14(1):16. doi: 10.1186/s13023-018-0976-2
  16. Ali A, Ali N, Hanif MI, Ali SR. Discovering Down's syndrome: an account from a low-middle-income country. Pakistan Journal of Medical Sciences. 2024; 40(9): 2149-2151. doi: 10.12669/pjms.40.9.9083
  17. Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, et al. Consanguinity, endogamy, and genetic disorders in Tunisia. Journal of Community Genetics. 2013; 4(2): 273-284. doi: 10.1007/s12687-012-0128-7
  18. El Goundali K, Chebabe M, Elkhoudri N, Hilali A. Influence of consanguinity on non-communicable diseases in Settat, Morocco. Journal of Research and Health Sciences. 2025; 25(2): e00646. doi: 10.34172/jrhs.2025.181
  19. Albanghali MA. Prevalence of consanguineous marriage among Saudi citizens of Albaha: A cross-sectional study. International Journal of Environmental Research and Public Health. 2023; 20(4): 3767. doi: 10.3390/ ijerph20043767

Submitted date:
03/08/2026

Reviewed date:
08/28/2026

Accepted date:
08/05/2026

Publication date:
08/06/2026

6a74451ca953952ba564bc87 mjmmr Articles
Links & Downloads

Mediterr J Med Med Sci

Share this page
Page Sections