Down Syndrome 4

Introduction Down syndrome is a chromosomal abnormality. It is the most frequent form of mental retardation and is characterised by well-defined, distinctive phenotypic features and natural history. An error in cell development results in forty-seven chromosomes rather than the usual forty-six. There are three major types of Down syndrome. About ninety-five percent of individuals with Down syndrome have Trisomy 21. There is also Translocation and Mosaicism. Down syndrome can also be referred to as Mongolism, the …

…the mechanism of how these genes interfere with normal developmental sequences, and if one could counteract these specific actions, a rational approach to medical therapy could emerge. Detection Down syndrome can easily be detected before its symptoms appear, by screening the mother for chromosomal defects. This is done by amniocentesis. By looking at the karyotype researchers can identify Down syndrome prenatally. There has been no discovery on how to detect a carrier for Down syndrome.