Down Syndrome: Parental Origin, Recombination, and Maternal Age
نویسندگان
چکیده
منابع مشابه
Down syndrome and maternal age in South Glamorgan.
Seventy cases of Down syndrome have been ascertained in South Glamorgan during the period 1968 to 1976. This gives an overall incidence of 1 in 658 live births. Analysis of the data on the basis of single years of maternal age gives an incidence of 1 in 200 by 36 years, 1 in 100 by 40 years, and 1 in 50 by 44 years. All incidence figures are for live births at age of delivery.
متن کامل[Maternal age and Down syndrome in Northeast Brazil].
This study analyzes the association between advanced maternal age and increased incidence of Down syndrome in neonates, based on a population sample from the State of Bahia in Northeast Brazil. Age of the mothers of 220 Down syndrome subjects was investigated, and age distribution was compared to that of the population control group, 220 mothers of subjects without Down syndrome. The proportion...
متن کاملEtiology of Down Syndrome: Risk of Advanced Maternal Age and Altered Meiotic Recombination for Chromosome 21 Nondisjunction
Down Syndrome (DS) is the most frequent live born aneuploidy and recognizable form of mental retardation among all the ethnic groups of human population across the globe. The overwhelming majority of this birth defect is caused by trisomy 21 due to nondisjunction (NDJ), i.e., failure of chromosomes to separate properly during meiosis at parental gametogenesis and the fact was initially reported...
متن کاملMaternal smoking and Down syndrome: the confounding effect of maternal age.
Inconsistent results have been reported from studies evaluating the association of maternal smoking with birth of a Down syndrome child. Control of known risk factors, particularly maternal age, has also varied across studies. By using a population-based case-control design (775 Down syndrome cases and 7,750 normal controls) and Washington State birth record data for 1984-1994, the authors exam...
متن کاملPhenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome.
We compared the frequency of phenotypic features of 40 children with Down syndrome between individuals with a maternally or paternally derived extra chromosome 21, using quantitative FISH for comparing heteromorphisms of the nucleolar organizing region. Parental origin was determined in 90% of families. Hypotonia and craniofacial abnormalities were present in 90% or more individuals, irrespecti...
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ژورنال
عنوان ژورنال: Genetic Testing and Molecular Biomarkers
سال: 2012
ISSN: 1945-0265,1945-0257
DOI: 10.1089/gtmb.2011.0066