Genetic Factors in the Etiology of Congenital Heart Defects in Down syndrome
نویسندگان
چکیده
Downov sindrom najčešća je aneuploidija kromosoma 21. Neurorazvojni poremećaji i tipične kraniofacijalne dismorfije prisutne su u različitom stupnju svih osoba. Prirođene srčane greške kongenitalna anomalija, s prevalencijom 40-55 %. Najčešće prirođene osoba Downovim sindromom jesu septalni defekti. Uzrok prirođenih srčanih grešaka do danas nije potpunosti razjašnjen. Pretpostavka da polimorfizmi gena uključeni metabolizam folata homocisteina utječu na obrazac metilacije DNA, što može rezultirati razvojem greške. Cilj rada kroz pregled literature istražiti ulogu polimorfizama MTHFR, MTRR DNMT etiologiji sindromom.
منابع مشابه
The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects
Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases. This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...
متن کاملthe prevalence of celiac disease in down syndrome children with and without congenital heart defects
background the prevalence of celiac disease (cd) is remarkably varied in down syndrome(ds)patientscompared with other diseases. this study aimed to assess celiac disease prevalence in down syndrome children with and without congenital heart defects (chd) and its comparison with controls. materials and methods this case-control study was performed at a single center on 132 participants in three...
متن کاملTrends in Congenital Heart Defects in Infants With Down Syndrome.
BACKGROUND As a result of antenatal screening, abortion of fetuses with Down syndrome has become increasingly common. Little is known about the cardiovascular phenotype in infants with Down syndrome born today. METHODS Population-based cohort study based on national health registers including 2588 infants with Down syndrome, live-born in Sweden from 1992 to 2012. Risk ratios for congenital he...
متن کاملPopulation-based study of congenital heart defects in Down syndrome.
Mental retardation and hypotonia are found in virtually all Down syndrome (DS) individuals, whereas congenital heart defects (CHDs) are only present in a subset of cases. Although there have been numerous reports of the frequency of CHDs in DS, few of the studies have had complete ascertainment of DS in a defined geographic area. The Atlanta Down Syndrome Project, a population-based study of in...
متن کاملPrenatally detectable congenital heart defects in fetuses with Down syndrome.
OBJECTIVE To document the incidence of congenital heart defects (CHD) that are detectable echocardiographically in the fetus with trisomy 21 and the relationship with nuchal translucency, fetal sex and ethnicity. METHODS Data on fetuses with a karyotypic diagnosis of trisomy 21 were collected between January 2002 and March 2010. The data were analyzed for the gestational age at examination, m...
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ژورنال
عنوان ژورنال: Medicina Fluminensis
سال: 2023
ISSN: ['1847-6864', '1848-820X']
DOI: https://doi.org/10.21860/medflum2023_306343