Cytogenetic study of down syndrome in Algeria: Report and review
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 clinica...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Journal of Medical Sciences |
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| Online Access: | http://jms.ndmctsgh.edu.tw/article.asp?issn=1011-4564;year=2016;volume=36;issue=2;spage=46;epage=52;aulast=Belmokhtar |
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| author | Fayza Belmokhtar Rahma Belmokhtar Ahmed Kerfouf |
| author_facet | Fayza Belmokhtar Rahma Belmokhtar Ahmed Kerfouf |
| author_sort | Fayza Belmokhtar |
| collection | DOAJ |
| description | 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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| format | Article |
| id | doaj.art-4d390a94ec70401585a40b64227449e0 |
| institution | Directory Open Access Journal |
| issn | 1011-4564 |
| language | English |
| last_indexed | 2024-12-21T12:16:14Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
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| series | Journal of Medical Sciences |
| spelling | doaj.art-4d390a94ec70401585a40b64227449e02022-12-21T19:04:26ZengWolters Kluwer Medknow PublicationsJournal of Medical Sciences1011-45642016-01-01362465210.4103/1011-4564.181526Cytogenetic study of down syndrome in Algeria: Report and reviewFayza BelmokhtarRahma BelmokhtarAhmed KerfoufBackground: 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.http://jms.ndmctsgh.edu.tw/article.asp?issn=1011-4564;year=2016;volume=36;issue=2;spage=46;epage=52;aulast=BelmokhtarCytogenetic analysisdown syndromekaryotypematernal ageAlgeria |
| spellingShingle | Fayza Belmokhtar Rahma Belmokhtar Ahmed Kerfouf Cytogenetic study of down syndrome in Algeria: Report and review Journal of Medical Sciences Cytogenetic analysis down syndrome karyotype maternal age Algeria |
| title | Cytogenetic study of down syndrome in Algeria: Report and review |
| title_full | Cytogenetic study of down syndrome in Algeria: Report and review |
| title_fullStr | Cytogenetic study of down syndrome in Algeria: Report and review |
| title_full_unstemmed | Cytogenetic study of down syndrome in Algeria: Report and review |
| title_short | Cytogenetic study of down syndrome in Algeria: Report and review |
| title_sort | cytogenetic study of down syndrome in algeria report and review |
| topic | Cytogenetic analysis down syndrome karyotype maternal age Algeria |
| url | http://jms.ndmctsgh.edu.tw/article.asp?issn=1011-4564;year=2016;volume=36;issue=2;spage=46;epage=52;aulast=Belmokhtar |
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