Estimation of common chromosomal aneuploidies in the population of Bahrain : 20 years of findings in the genetic laboratory
Joint Authors
Sanad, Hasan
al-Mumin, Nabil
Newton, Hema
Mahdi, Fawziyah
Abbas, Ruqayah
Thabit, Ahmad
al-Hajiri, Amani
Source
Issue
Vol. 43, Issue 1 (31 Mar. 2021), pp.322-326, 5 p.
Publisher
King Hamad University Hospital
Publication Date
2021-03-31
Country of Publication
Bahrain
No. of Pages
5
Main Subjects
Abstract EN
Objective: To evaluate the incidence of common chromosomal aneuploidies in Bahrain during the last 20 years (1999-2019).
Design: A Retrospective and Descriptive Study.
Setting: Genetic Laboratory (now National Genome Center) at Salmaniya Medical Complex, Bahrain.
Method: A total of 5,153 patients’ karyotypes and clinical reports were reviewed retrospectively.
Conventional cytogenetic analysis was accomplished for karyotype reporting at the 400-band resolution level by using Giemsa staining technique.
Fluorescence in situ hybridization (FISH) assay was used as well on selected cases.
Results: Out of 5,153 patients we uncovered 758 cases with various structural and numerical abnormalities.
Numerical abnormalities (aneuploidies) were uncovered in 529 (69.7%) subjects.
This includes 476 (62.8%) cases with autosome aneuploidies and 53 (6.9%) cases with sex-chromosome aneuploidies.
Trisomy 21 (Down’s syndrome) is the most common autosomal aneuploidy at 404 (53.3%) with an estimated population incidence rate of 1:701 live births.
Trisomy 18 (Edward’s syndrome) found in 53 (6.9%) patients, and trisomy 13 (Patau’s syndrome) at 4% (19 patients) of autosomal aneuploidies.
Incidence rate indicates 1:5343 for trisomy 18 and 1:16660 for trisomy 13.
In contrast, our findings for the sex-chromosome aneuploidies includes 17 (2.2%) patients with Klinefelter’s syndrome (47, XXY) and 28 (3.7%) patients with either standard Turner’s syndrome (45, XO), 9 (1.2%), or other various mosaic Turner’s syndrome, 19 (2.5%).
Estimated incidence rate for Turner’s syndrome is 1:10115 and for Klinefelter’s syndrome is 1:16660.
Finally, we uncovered 8 (1.1%) patients with rare sex chromosome aneuploidies or combined sex chromosome and autosome aneuploidies with an estimated overall incidence of 1:35402.
Conclusion: The most common autosomal aneuploidies in Bahrain is attributed to trisomy 21 (Down’s syndrome) followed, with significantly less frequency, by trisomy 18 and 13.
For sex-chromosome aneuploidies, various types of Turner’s syndrome (including mosaics) are the most common followed by the Klinefelter’s syndrome.
American Psychological Association (APA)
al-Mumin, Nabil& Thabit, Ahmad& al-Hajiri, Amani& Newton, Hema& Mahdi, Fawziyah& Abbas, Ruqayah…[et al.]. 2021. Estimation of common chromosomal aneuploidies in the population of Bahrain : 20 years of findings in the genetic laboratory. Bahrain Medical Bulletin،Vol. 43, no. 1, pp.322-326.
https://search.emarefa.net/detail/BIM-1440171
Modern Language Association (MLA)
al-Mumin, Nabil…[et al.]. Estimation of common chromosomal aneuploidies in the population of Bahrain : 20 years of findings in the genetic laboratory. Bahrain Medical Bulletin Vol. 43, no. 1 (Mar. 2021), pp.322-326.
https://search.emarefa.net/detail/BIM-1440171
American Medical Association (AMA)
al-Mumin, Nabil& Thabit, Ahmad& al-Hajiri, Amani& Newton, Hema& Mahdi, Fawziyah& Abbas, Ruqayah…[et al.]. Estimation of common chromosomal aneuploidies in the population of Bahrain : 20 years of findings in the genetic laboratory. Bahrain Medical Bulletin. 2021. Vol. 43, no. 1, pp.322-326.
https://search.emarefa.net/detail/BIM-1440171
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 325-326
Record ID
BIM-1440171