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ORIGINAL ARTICLE
Year : 2016  |  Volume : 36  |  Issue : 2  |  Page : 46-52

Cytogenetic study of down syndrome in Algeria: Report and review


1 Department of Ecology and Environment, Faculty of Natural Sciences and Life and Sciences of Earth and the Univers, Abou Bekr Belkaid University, Tlemcen 13000; Department of Medicine, Faculty of Medicine, Abdelhamid Ibn Badis University, Mostaganem 27000, Algeria
2 Department of Ecology and Environment, Faculty of Natural Sciences and Life and Sciences of Earth and the Univers, Abou Bekr Belkaid University, Tlemcen 13000, Algeria
3 Department of Environmental Sciences, Faculty of Natural Sciences and Life, Djillali Liabes University, Sidi Bel Abbes 22000, Algeria; Department of Biology and Geosciences, Université du Maine, Le Mans, France

Correspondence Address:
Fayza Belmokhtar
Department of Medicine, Faculty of Medicine, Abdelhamid Ibn Badis University, Mostaganem 27000
Algeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1011-4564.181526

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Background: Down syndrome (DS) is the most common type of chromosomal trisomy found in newborn. It is associated with mental retardation and characteristic facial features. A clinical diagnosis of DS may be unconfirmed in one-third of cases. Objective: This study was conducted to confirm the clinical diagnosis of suspected cases with DS by a cytogenetic analysis and to evaluate several risk factors associated with trisomy 21 in a group of patients from West region of Algeria, Tlemcen. Materials and Methods: Karyotype analysis was carried out for 22 patients with the clinical diagnosis of DS. GTG-band and RTG-band have been made according to the standard protocols. Results: Among the 22 cases with DS, free trisomy 21 was presented in 20 cases (91%). One case (4.5%) had translocation DS. One other case had mosaic DS. There was an excess of male than female; sex ratio was 1.75:1. The mean maternal age at birth of the affected children was 36.27 ± 7.59 years. It was significantly higher than this of mothers of nontrisomic children (27.83 ± 6.34 years; P = 0.0002). Higher parity was an important risk factor associated with trisomy 21, 81% of affected children were of last or second last birth order. Paternal age and consanguinity had no effect. Conclusion: The identification of specific types of chromosomal abnormalities in DS children is very significant. It greatly helped in the management of these children and to make aware the affected families about the recurrence risk and the options available.


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