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Journal of Medical Sciences MEDLINEScopus

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篇名 Cytogenetic Study of Down Syndrome in Algeria: Report and Review
卷期 36:2
作者 Fayza BelmokhtarRahma BelmokhtarAhmed Kerfouf
頁次 046-052
關鍵字 Cytogenetic analysisdown syndromekaryotypematernal ageAlgeriaMEDLINEScopus
出刊日期 201604
DOI 10.4103/1011-4564.181526

中文摘要

英文摘要

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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