Cytogenetic Analysis in Down Syndrome

Jayalakshamma,; Margaret, Mary; Amudha, S.; Tilak, Preetha; Devi, Rema; Rajangam, Sayee

doi:10.1080/09723757.2010.11886091

Cited by 13 publications

(19 citation statements)

References 5 publications

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“…0.6% was noted in Morocco and Libya, while 18.1% was noted in Chile [5,23,37]. Our frequency (4.5%) is similar to those found in Tunisia, Malaysia and India [4,26,29]. But it's higher than other reports in Egypt (0.8%), Oman (2.79%), Jordan (3.8%), China (3.5%), France (2.3%), Denmark (2.6%) and Brazil (3.1%) [17,22,[43][44][45][46][47].…”

Section: Discussionsupporting

confidence: 71%

“…Previous studies have reported that the frequency of translocation Down syndrome varied from 0.67% to 8.8%, where the lowest frequency was noted in Iran, UAE and Malaysia and the highest frequency was reported in India (8.8%) [4,19,26,40]. The frequencies around 4% were noted in Tunisia (4.1%), Saudi Arabia (4.1%), India (4.1%), Australia (4.1%) and Brazil (4%) [28,29,36,42,43].…”

Section: Discussionmentioning

confidence: 99%

“…Trisomy 21 is characterized by the presence of three copies of chromosomes 21, generally resulting from nondisjunction during maternal meiosis, while the extra chromosome 21 in mosaic Down syndrome arises from mitotic non-disjunction in a chromosomally normal zygote [3]. For Down syndrome by translocation, the extra chromosome 21 translocated to other chromosomes or to the acrocentric chromosomes of D and G group that is, 13, 14, 15, 21 and 22 [4].…”

Section: Introductionmentioning

confidence: 99%

“…Advanced maternal age remains the major well documented risk factor for maternal meiotic nondisjunction. The incidence of trisomy 21 conceptions increases with maternal age [1][2][3][4][5]. Subsequently, maternal parity was established as an additional independent risk factor and genetic predisposition as third independent risk factor [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Belmokhtar¹,

Belmokhtar²,

Kerfouf³

2016

J Genet Syndr Gene Ther

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Background: Down syndrome (DS) is the most common type of chromosomal trisomy found in new-born. It's associated with mental retardation and characteristic facial features. A clinical diagnosis of Down syndrome may be unconfirmed in one third of cases.Objective: This study was conducted to confirm the clinical diagnosis of suspected cases with Down syndrome 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 method:Karyotype analysis was carried out for 22 patients with the clinical diagnosis of Down syndrome. GTG-band and RTG-band have been made according to the standard protocols.Results: Among the 22 cases with Down syndrome, Free trisomy 21 was presented in 20 cases (91%). One case (4.5%) had translocation Down syndrome. One other case had mosaic Down syndrome. 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 non-trisomic 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 Down syndrome 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.frequency ranges from 2% to 5% [10]. However, these values show a geographical variation from the Eastern to the Western countries. In Algeria, the number of children with Down syndrome is about 80.000 cases [11]. No data is yet available about cytogenetic variants of Down syndrome in the Algerian population.The aim of this study was to describe the cytogenetic profile of children with Down syndrome in the west region of Algeria, Tlemcen. Study the impact of maternal age and other risk factors associated with this disorder. Then review and compare the findings of previous international studies with our results.

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Section: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Belmokhtar¹,

Belmokhtar²,

Kerfouf³

2016

J Genet Syndr Gene Ther

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“…The findings of some other authors (20) reported high presence of Robertsonian translocation 14q; 21q in children with translocation trisomy 21 (62.34%). In our study the most frequent type of translocation were the Robertsonian translocation 21q; 21q (58.8%) (Table 4).…”

Section: Discussionmentioning

confidence: 67%

Cytogenetic Study in Children with Down Syndrome Among Kosova Albanian Population Between 2000 and 2010

Kolgeci¹,

Kolgeci²,

Azemi³

et al. 2013

Mater Sociomed

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Conflict of interest: none declared.AimThe aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome.MethodsCytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright.ResultsIn the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been realized. Of which in 285 children (93.4%) were found free trisomy 21 (regular type), and in three other children (~1.0%) were detected mosaic trisomy 21. Translocation trisomy 21 was detected in 17 children (5.6%), of which in 14 children it occurred de novo translocation, whereas in 3 other children translocation has been inherited by a parent translocation carrier. The highest number of children with Trisomy 21 due to translocation was caused by Robertsonian translocation created by a fusion of two homologous chromosomes 21 (3.3%). Analysis showed that the number of children born with Down’s syndrome, from 2000 to 2010, was not decreasing among the Kosova Albanian population.ConclusionDown syndrome resulted by an extra free chromosome 21 is the most common genetic cause for that condition. Robertsonian translocations present in Down syndrome children often are de novo or inherited from a carrier parent with translocation.

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Rare Disease Registries: A Case Study of the Haemophilia Registry in India

Nakade¹

2021

Birth Defects in India

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Cytogenetic Analysis in Down Syndrome

Cited by 13 publications

References 5 publications

Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Cytogenetic Study in Children with Down Syndrome Among Kosova Albanian Population Between 2000 and 2010

Rare Disease Registries: A Case Study of the Haemophilia Registry in India

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