What Are Chromosomal Disorders?

Genetic is a branch of biology which deals with principles of inheritance and its practices. Progeny resembling the parents in morphological and physiological features has attracted the attention of many biologists and various disorders related to genetics are founded. Broadly, genetic disorders may be grouped into two categories – Mendelian disordered and Chromosomal disorders. The chromosomal disorders are caused due to lack or excess or inproper arrangement of chromosomes.

The total no. of chromosomes in a human cell is 46. Out of these 22 pairs are autosomes and one pair of chromosomes are sex chromosomes. Sometimes, though rarely, either an additional copy of chromosomes. These situations are called as trisomy or monosomy of the chromosomes, respectively. Such situations can lead to very serious consequences in an individual. Down’s syndrome, Turner’s syndrome, Klinefelter’s syndrome are the most common examples of chromosomal disorders.

Down’s Syndrome:

The cause of this genetic disorder is the presence of an additional copy of chromosome number 21 (trisomy of 21). This disorder was first put forward by Langdon Down in 1866. The affected individual is short stature with a small circular head, furrowed tongue, and little amount of open mouth. Palm is broad with characteristic palm crease. Physical, psychomotor and mental development is retarded.

Klinefelter’s Syndrome:

This genetic disorder is also caused due to the presence of an additional copy of X-chromosome resulting in a karyotype of 47, XXY. Such an individual has overall masculine development, however, the feminine development (development of breast, i.e., Gynaecomastia) is also expressed. Such individuals are sterile.

Turner’s Syndrome:

Such disorder is caused because of the lack of one of the X chromosomes, i.e., 45 with X0, Such females are sterile as ovaries are rudimentary besides other features including lack of other secondary sexual characters.

It is very hard to treat genetic disorders. However, medical science has developed a few methods to treat it partially. For more information regarding genetic disorders, watch the video:

https://www.youtube.com/watch?v=ns6WzsfHrDI
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