Chromosomal diseases - a pathology that depends on mutations

The modern level of development of medicine has shown that predisposition to certain diseases or the occurrence of diseases at any age can be due to hereditary causes or damage to the hereditary material (mutation of chromosomes) of parents. To date, it has been proven that chromosomal diseases can cause the development of disorders in the work of various organs and systems of the body, and the degree of severity of pathology depends on many factors.

Chromosomal diseases - "heavenly" punishment or the impact of the environment?

The causes of the appearance of this type of ailments are violations of the structure of individual chromosomes or changes in their number. Mutations that provoke human chromosomal diseases can occur in the parental cells of the parents (in this case, the changes will be detected in all cells of the organism of the offspring) or at very early stages of embryonic development. In this case, in a genetic study, changes will be detected only in part of the cells - mosaicism occurs. The degree of severity of the violations largely depends on the point at which the parental chromosomes were affected, as well as the extent to which such a change was expressed.

Defect of the chromosome set can arise in sex chromosomes and in autosomes, and in either case mutations are possible, and also change in quantity-a decrease or an increase in the number of carriers of hereditary information. In the overwhelming majority of cases, chromosomal diseases have a vivid clinical manifestation, and there is a difference between diseases that are associated with the defeat of autosomes and changes in sex chromosomes. In the first case, the clinical picture of the disease is clearly manifested already in the first days of the newborn's life, whereas the pathology of the sex chromosomes can be clearly manifested only by the period of puberty of the child.

Causes of chromosomal diseases

In the overwhelming majority of cases, the cause of chromosome mutation is the negative impact of harmful environmental factors on sex cells and hereditary material contained in them. Damaging factors can be ionizing radiation, high and low temperatures, chemical agents, including drugs, viral agents and metabolic changes in the parents' organisms.

When is karyotyping necessary?

It has been proven that changes in the sex cells can accumulate with age, which is why "age" parents in the planning of the family or during supervision during pregnancy are necessarily referred for medical genetic counseling. It is required to conduct chromosome studies (study of the karyotype of future parents) in case of spontaneous abortions and stillbirths, and also to conduct research if the doctor suspects any chromosomal pathology in the child.

The current level of development of medicine has proved that the same chromosomal diseases can be caused both by a change in the number of chromosomes and by chromosome rearrangement in a single group. To such diseases, above all, is Down's disease, which can be caused as an increase (trisomy 21 pairs of chromosomes), and by attaching the "extra" 21 chromosomes to other pairs. In this case, conducting a study in the presence of children in the family with this hereditary pathology helps to predict the probability of a healthy baby.

Chromosomal diseases - is treatment possible?

Every doctor who has to deal with any chromosomal diseases, with bitterness, has to admit that radical treatment of patients is impossible. That is why, when an autosomal infection occurs, symptomatic treatment is performed , designed only to a small extent to compensate for developing disorders. In any case, the patients are found multiple developmental defects, including mental retardation, cardiovascular system defects, gross changes in metabolism.

The defeat of sex chromosomes, for example, trisomy on the X chromosome, can manifest itself in girls only when reaching the age of puberty. In this disease, there are rare gross developmental defects, and the resulting violations of sexual differentiation can be compensated to some extent by the intake of hormonal drugs. It should be understood that such therapy does not affect the hereditary apparatus of the cell (the chromosomes themselves), but it helps to cope with the arising deviations in the physical and mental status of the patients.