Diseases Diseases

What Is a Genetic Diesese ?

Published at 02/06/2012 22:45:53


The anatomy and the organs of a person are determined by the genetic information. Every species, whether we are talking about plants or animals has a genetic foundation, formed by chromosomes. Those are relatively big structures, reported to the microbiological scale, formed by DNA. As an aspect, a chromosome has an approximate shape of the letter X, and DNA is fragmented in the genes. The position of the genes is fixed for the same species. Human being has 46 chromosomes, grouped in pairs of 23 from the mother and 23 from the father. From the 46 chromosomes, 44 determine the structure and the function of organs, and 2 of them determine the sex of the respective persons. The 2 chromosomes are called sexual chromosomes. Therefore, a woman has two X chromosomes, and the male has one X and one Y chromosome. Those associations create the genetic sex, and for healthy persons, this is identically to the anatomical sex.


The genetic diesese can affect the chromosomes, and they are called chromosomal diesese. If the disease affects a larger number of genes, it is called genetic diesese. The chromosomal affection can appear because an abnormal number of chromosomes.

The genetic diseases are numerous, and they also require special tests, and the consult of a specialized doctor in such diesese. The chromosomal diseases are severe conditions, as a large quantity of genetic information is implied. This is why, in the majority of cases, those affections are compatible with life. More than half of the abortions from the first trimester are owned to an abnormal behavior of chromosomes. A small part of those children survives, and those children are born with a genetic diesese.


The chromosomal diseases are: Down syndrome, Edwards syndrome, Patau and Turner syndrome, and triploidya. However, the most common genetic diesese is the Down syndrome, and it is the genetic affection that is manifested through intellectual disability, or what it is commonly called a retarded person. Te intellectual retard has an IQ of 40. Moreover, people suffering from this condition could also have a specific physical appearance. In brief lines, those children are smaller, they have a characteristic face, they could suffer from cardiac malformations, and problems with hearing and seeing. parents also have problems after giving birth to such a child, as they are afraid to try a second time. 

Tips and comments

The incidence of the Down syndrome depends on the age of the mother. An older mother has greater risks to have a child with Down syndrome. In USA, 1 of 700 children is born with this problem, in the absence of any intervention. However, in the developed societies where mothers have the tendency to have their first child at mature ages, this problem appears more often. However, the children that are born with this syndrome live until 50-60 years, despite the fact that some of them have a malformation, and their intellect is reduced. The society has to study this subject correctly, as those children also deserve a chance to a second life.