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1 Definition of Down Syndrome Down Syndrome congenital malformation accompanied by moderate to severe mental retardation and caused by a chromosomal abnormality The chance of getting Down syndrome is approximately one in 700 births but the risk varies with the age of the mother The incidence of Down syndrome in children born to 25-year-old mothers is approximately 1 in 1200 the risk increases to approximately 1 in 120 for women older than 40 years Prenatal tests like amniocentesis and chorionic villus sampling can be used to detect the chromosomal abnormality causing Down syndrome Maternal blood tests can also suggest the presence of a fetus with Down syndrome when levels of alphafetoprotein are lower than usual or when levels of unconjugated estriol and human chorionic gonadotrophin are abnormal The chromosomal abnormality which generally causes Down syndrome is trisomy-21 or the presence of three 21st chromosomes As a result the affected person has 47 chromosomes in all body cells instead of the normal 46 Scientists assume that the reason for the abnormally is the fertilization of an ovum having 24 chromosomes by a sperm with a normal assortment of 23 but they have also found that the sperm can carry the extra chromosome as well The abnormal ovum or sperm is derived from a germ cell in which the pair of 21st chromosomes holds together and passes into the same sperm or ovum instead of separating There are two types of Down Syndrome translocation and mosaicism Down syndrome can not yet be treated but medical care of the disease results in an almost normal life for the persons affected In the past many children with Down syndrome were put in institutions Today Most children with Down syndrome participate in public-school programs and most adults with Down syndrome hold jobs of different types in our society Persons with Down syndrome are often short in stature and have a small round head with a high flattened
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