Recognition and evaluation of the effectiveness of molecular techniques in theanalysis of Down syndrome for future diagnosis

Down syndrome is a genetic condition where people are born with an extra chromosome. Most peoplehave 23 pairs of chromosomes within each cell in their body, for a total of 46. Down syndrome canaffect anyone. It’s a genetic condition, and it doesn’t happen as a result of something that the parentsdid before or during pregnancy. The majority of Down syndrome cases happen randomly (sporadically).People don’t usually inherit Down syndrome in an autosomal dominant or recessive pattern duringconception when the egg and sperm meet. A person diagnosed with Down syndrome has an extra copyof chromosome 21, which means their cells contain 47 total chromosomes instead of 46. This changesthe way their brain and body develop. Down syndrome is a condition in which a person has an extrachromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby'sbody forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with46 chromosomes. You have probably met people with Down syndrome many times. People who havea special appearance due to having an extra chromosome are mentally different from us and may havesome physical limitations. There is no complete cure for this disorder, but people with this disorder canbe helped. In this way, there are many rehabilitation and support treatments for them. The combinationof these treatments will help them live a more comfortable life. Recent medical advances as well asvarious supports from society and institutions have made people with Down syndrome better able toface the challenges ahead of them. Down syndrome is a genetic disease that occurs due to the presenceof all or part of an extra chromosome in the pair of chromosome 21, which is called trisomy 21 inscientific terms. This disease has various symptoms, including major or minor abnormalities in thestructure or function of organs. Down syndrome is a condition in which a baby is born with an extracopy of its 21st chromosome - hence its other name, trisomy 21. This problem delays physical andmental development. Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomyin chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelianinheritance, due to the lack of Mendel’s laws. The disorder in children is identified through clinicalsymptoms and chromosomal analysis and till now there are no biochemical and molecular analyses.Presently, whole exome sequencing (WES) has largely contributed in identifying the newdiseasecausing genes and represented a significant breakthrough in the field of human genetics and thistechnique uses high throughput sequencing technologies to determine the arrangement of DNA basepairs specifying the protein coding regions of an individual’s genome. Apart from this next generationsequencing and whole genome sequencing also contribute for identifying the disease marker. From thisreview, the suggestion was to perform the WES is DS children to identify the marker region.

Recognition and evaluation of the effectiveness of molecular techniques in theanalysis of Down syndrome for future diagnosis Keywords:

Downs syndrome , Exome sequencing , Chromosomal analysis , Genes , Genetics