Chromosomal Abnormality Disorders

by Sam Malone

Our entire body is made up of tiny cells. These cells together help the body to function smoothly. Cells contain a nucleus within them and each nucleus contains chromosomes. Chromosomes carry vital DNA information inherited from our parents. We call these genes. Typically, each cell holds 46 chromosomes in pairs of 23. One set of 23 chromosomes is inherited from the mother, and the other set from the father. Scientists tell us that one cell can hold up to 25,000 genes. A chromosome abnormality happens when there is an aberration in the number of chromosomes per cell or in the structure of the chromosome. These abnormalities can cause medical conditions such as Down’s syndrome.

What Causes Chromosomal Abnormalities?

Chromosomal abnormalities can be inherited from the parents or can be new to the child. There are various reasons for the occurrence of these abnormalities. The cells in our body are constantly being replaced by newer cells. Mitosis is a term given for when an older cell divides into two newer cells. During this division, the chromosomes may not divide equally, thus causing a chromosomal abnormality, which can ultimately result in a genetic disorder.


Another factor that can lead to a chromosomal abnormality is the age of the mother when she conceives a child. Older women have a greater chance of giving birth to babies with chromosomal abnormalities. This is because the age of the eggs corresponds to the age of the woman. Therefore, the older the woman is, the older the eggs, and age can increase the chances of genetic dysfunction in the eggs. Older women are therefore advised to closely consult a doctor during pregnancy and monitor the fetus through various tests.

There is little research to back it yet, but scientists believe that the environment we live in may also be a factor contributing to chromosomal abnormalities.

How do these abnormalities manifest?

Chromosomal disorders can happen in many ways. There can be drastic changes in the human body if a single chromosome is missing. Alternatively, having an extra chromosome can cause a genetic defect as well. There can be defects in the structure of the chromosome that can lead to a permanent medical condition. Some chromosomes may have duplications, deletions, or inversions in its structure.

Abnormal chromosomes may not be present in all cells. In this case, the defects may be considerably milder in the individual. Chromosomal abnormalities usually occur in the newly formed fetus. As a result of this, the abnormalities are present in each and every cell in the baby’s body, thus causing severe cases of defect. The later the chromosomal abnormality occurs in the fetus, the more chances that the defects are milder as it may not be present in all cells of the body.

Let us take a look at some chromosomal disorders that happen in human beings.

  • Down’s syndrome is caused when there is an extra set of the chromosome number 21. This results in the child being physically and mentally challenged. It is said to be the most common of chromosomal abnormalities.
  • Edward’s syndrome is a medical condition where the individual has three copies of chromosome 18 instead of two. This is also a common syndrome, and most children affected by it do not survive infancy.
  • Klinefelter syndrome is a common sex chromosome defect. In this, men have an extra X chromosome, and so this condition is often referred as the XXY syndrome. Not all males with XXY syndrome may display symptoms of the condition.
  • Turner’s syndrome is a sex chromosome disorder that occurs to females. In this case, one X syndrome is completely or partially missing. This effects the growth and development of the child.

Medical treatment for each disorder varies according to the individual. Please consult a doctor for expert medical help.

References:

  1. http://www.genome.gov/11508982/
  2. http://anthro.palomar.edu/abnormal/abnormal_3.htm

 


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