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riders means “parent” or “born” in Greek. Hence the name of genetic diseases that are associated with mutations of genes passed on to the child by parents. Unfortunately, there is no way to prevent this type of disease. Appropriate and early fetal examinations allow for the detection of some of them and in some cases the use of only therapies that reduce the symptoms of such diseases. Medicine, however, is still learning about human genetics more deeply. It is possible that one day we will completely eliminate genetic diseases from the pool of those that attack humans.
Do you have to inherit a genetic disease?
Not! It is wrong to think of genetic diseases only as inherited. Some of them are diseases caused by DNA mutations without inheritance! Many factors may be responsible for such mutations. A healthy lifestyle can prevent the development of genetic diseases of this type.
The most common genetic diseases: trisomies
Trisomies are related to chromosomal aberrations. What are they about? In cells, instead of two chromosomes, there are three chromosomes, which interferes with their normal functioning. These diseases are inherited, changes occur during the formation of the embryo (incorrect meiotic divisions, or incorrect separation of the chromosomes themselves during mitotic divisions).
- Extra chromosome 12: Patau syndrome
- Extra chromosome 18: Edwards syndrome
- Extra chromosome 21: Down syndrome
Trisomies of other chromosomes actually cause the death of the embryo right away. In medicine, therefore, only the above syndromes are known, which are associated with this type of genetic diseases.
Down syndrome – the most common genetic disease
It is also called Mongolism. People with this syndrome have a very specific, quickly recognizable appearance. They are usually shorter, have mongoid facial features and a peculiar appearance of furrows on the hands. They move harder, you can observe clumsy movements, they are mentally retarded. However, they have a beautiful disposition, usually cheerful and friendly. However, they may not fully understand all social interactions, which is why these children – even the best brought up – may seem seemingly aggressive (e.g. shouting obscenities). Down syndrome occurs in one child in a thousand born to young women under 28 years of age. More often, this disease affects children born to older women, although fertility is obviously lower in such women. In women over the age of XNUMX, one child in XNUMX is born with Down syndrome.