Chromosomal Abnormalities: Genetic Disease Burden in India

Kaur, Anupam; Singh, Jai Rup

doi:10.1080/09723757.2010.11886079

Cited by 24 publications

(12 citation statements)

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“…All diagnosed cases were reported in our study were having confirmed DS in north Karnataka region. The frequency of free trisomy reported in the present study is most common seen which is in accordance with earlier reports [17,18,19]. Other studies revealed that advanced paternal age combined with advanced maternal age significantly influences the incidences of DS [20].However, earlier studies in the world reports regarding the maternal and paternal ages that increases the risk of chromosomal aneuploidy [21].…”

Section: Resultssupporting

confidence: 92%

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Cytogenetic Analysis of Down Syndrome

Kadakol

Bagoji

Patil

et al. 2019

IJCBR

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Objective: Down syndrome is a common genetic disease, diagnosed with congenital malformation/mental retardation. Down syndrome occurs in all races & economic levels. It is caused by third copy of chromosome 21, there are there forms of DS. Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy. The aim of the study is to know cause of Down syndrome. Chromosomal analysis was carried out by G banding technique. Materials and Methods: 1 ml of peripheral blood samples were collected in Out Patient Department of pediatrics and Cytogenetic analysis was performed Results: out of 28, 3 female cases, 2 male cases were Down syndrome, All the 5 cases were free trisomy 21, which is common type of Down syndrome; we have not identified Robertsonian translocation and mosaic type of DS. Conclusion: The present analysis shows that genetic risk factors are responsible for the incidence of Down syndrome.

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Section: Resultssupporting

confidence: 92%

“…Present study Translocation trisomy21 & mosaic 21were not observed. Translocation and mosaic which are unique in nature as compared to previous studies [18].…”

Section: Resultsmentioning

confidence: 73%

Cytogenetic Analysis of Down Syndrome

Kadakol

Bagoji

Patil

et al. 2019

IJCBR

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“…According to literature, genetic and environmental factors play a major role in causing CAs during the first trimester [ 10 ]. Approximately, 7.6 million children are born with CAs worldwide due to genetic factors [ 11 ]. Although there is a better understanding of the etiology of CA in the literature, the causes of most of the CAs are still unknown.…”

Section: Introductionmentioning

confidence: 99%

Factors associated with congenital anomalies in Addis Ababa and the Amhara Region, Ethiopia: a case-control study

et al. 2018

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BackgroundThe early stage of embryo development is extremely vulnerable to various teratogenic factors, leading to congenital anomalies. In Ethiopia, a significant number of babies are born with congenital anomalies, but the risk factors for the anomalies have never been studied. Understanding the specific risk factors for congenital anomalies is very essential to provide health education that aims at creating awareness and establishing preventive strategic plan/s. The main objective of this study was to assess the risk factors associated with congenital anomalies in Addis Ababa and the Amhara Region, Ethiopia.MethodsA case-control study was conducted from January 1- June 30, 2015. The participants were recruited at the purposively selected hospitals in Addis Ababa and the Amhara Region. A total of 207 cases and 207 controls were included in the study. Cases were neonates, infants, and children 0-11 months of age with external and internal major congenital anomalies diagnosed by pediatricians. Controls were neonates, infants, and children 0-11 months of age without external and internal anomalies. Data on sociodemographic characteristics, exposure to risk factors, and reproductive history were collected by face to face interviews with children’s mothers/caregivers using a structured questionnaire. Binary logistic regression was employed to explore risk factors associated with the occurrence of the problems.ResultsAbout 87.4% of the children were below 6 months, and 12.6% were between 6 and 11 months. The majority (59.9%) of the children were male, with the M: F sex ratio of 1.49. The mean age of the mothers was 26 years (16-45 years). Unidentified medication use during early pregnancy (AOR = 4.595; 95% CI: 1.868-11.301, P-value = 0.001), maternal alcohol drinking (AOR = 2.394; 95% CI: 1.212-4.726, P-value = 0.012), and exposure to chemicals (AOR = 9.964; 95% CI = 1.238-80.193, P-value = 0.031) were significantly associated with the occurrence of congenital anomalies. Iron folate use (AOR = 0.051; 95% CI: 0.010-0.260, P-value = < 0.001) before and during early pregnancy had a protective effect on congenital anomaly.ConclusionUnidentified medication use, alcohol drinking during early pregnancy, and exposure to chemicals had a significant association with the occurrence of congenital anomalies, whereas iron folate use before and during early pregnancy had a protective effect from congenital anomalies.

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“…[10][11][12] These results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families. The need to create genetic units in developing countries is emphasized.…”

Section: Discussionmentioning

confidence: 99%