DOWN SYNDROME

Down Syndrome

Introduction

Down syndrome also known as Trisomy 21 is the condition in which extra genetic material causes delays in the way a child develops mentally and physically. This condition affects 1 in every 800 babies. The physical and mental problems associated with Down syndrome can vary among children. While some children with Down syndrome need medical attention, others lead very healthy lives. Down syndrome is not preventable but it can be detected before birth. Health problems in Down syndrome cases can be treated and there are community resources to help children and families with this condition.

Discussion

Basically Down syndrome is a situation or circumstance that occurs in humans as a result of a particular genetic alteration. This genetic alteration is that the baby's cells have at their core an extra chromosome or extra chromosome, i.e. 47 chromosomes instead of 46. A syndrome means the existence of a set of symptoms that define or characterize a particular pathological condition. This condition is named as Down syndrome because it was initially identified in the last century by the English physician John Langdon Down. However, it was discovered in 1957 by Dr. Jerome Lejeune that the main reason for the emergence of this syndrome is due to the nuclei of cells had 47 chromosomes instead of the usual 46. (Cunningham, 1999)

It is important to know that the man's sperm and woman's egg are embryonic or germ cells which have only half the chromosomes of other cells, i.e. 23. Therefore, when conception occurs and the egg and sperm fuse to cause the first cell of the new human organism, it has 46 chromosomes characteristic of the human species. From the first cell and successive cell divisions, it will be forming the millions of cells that form the various organs of our body. That means that when cells divide, each cell still possesses those 46 chromosomes. It should be recalled here that the importance of chromosome lies in its content, i.e. genes that reside within it.

Causes

However, it is recognized that the risk of having a baby increases significantly with maternal age. Because some couples wait until later to have children, the risk of having a baby with Down syndrome may increase. That is why parents who have children at older ages should get genetic counseling. Down syndrome is a disease which is a genetic disorder in which the child has an extra chromosome. It has three units of chromosome 21 (Trisomy 21) in place of the normal two. It is still unknown why a baby has this extra chromosome, and how this disturbs and distorts the development of its structure and normal functions. However, it will be one of the gametes (egg or sperm) carrying the chromosomal content in this error. It has been said that this anomaly is present in egg rather than sperm, therefore it has been suggested that the pregnancy should be avoided after a certain age (40 to 45 years), as there are greater possibilities of such errors . it has been said that if the woman of this age ...