The modern level of development of medicine has proved that a predisposition to certain diseases or the occurrence of diseases at any age can be caused by hereditary causes or damage to the hereditary material (chromosome mutation) of the 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 severity of the pathology depends on many factors.
Chromosomal diseases - “heavenly” punishment or environmental impact?
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 sex cells of parents (in this case, changes will be detected in all cells of the offspring's body) or in very early stages of embryonic development. In this case, during a genetic study, changes will be detected only in part of the cells - mosaicism occurs. The severity of violations largely depends on at what point the defeat of the parental chromosomes occurred, as well as how pronounced such a change is.
A chromosome set defect can occur in sex chromosomes and in autosomes, and in either case rearrangements (mutations) are possible, as well as a change in the number — a decrease or increase in the number of carriers of hereditary information. In the vast majority of cases, chromosomal diseases have a vivid clinical manifestation, and there is a difference between diseases that are associated with autosome damage and a change 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, while 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 vast majority of cases, the cause of chromosomal mutations is the negative impact of harmful environmental factors on germ cells and the hereditary material contained in them. Damaging factors can be ionizing radiation, high and low temperatures, chemical agents, including drugs, viral agents, and changes in metabolism in parents.
When is a karyotype study necessary?
It is proved that changes in germ cells can accumulate with age, which is why "age" parents when planning a family or during monitoring during pregnancy must be referred for medical and genetic counseling. It is necessary to conduct chromosome research (studying the karyotype of future parents) in case of spontaneous abortion and stillbirths, as well as research if the doctor suspects any chromosomal pathology in the child.
The modern level of development of medicine has proved that the same chromosome diseases can be caused both by a change in the number of chromosomes and by rearrangement of chromosomes in a single group. Such diseases, first of all, include Down's disease, which can be caused by both an increase (trisomy of 21 pairs of chromosomes) and the attachment of an “extra” 21 chromosome to other pairs. In this case, a study in the presence of children with this hereditary pathology in the family helps to make a forecast of the likelihood of a healthy child being born.
Chromosomal diseases - is treatment possible?
Every doctor who has to deal with any chromosomal diseases is bitterly forced to state that radical treatment of patients is impossible. That is why symptomatic treatment is carried out in case of autosome damage , which is designed only to a small extent to compensate for developing disorders. In any case, patients have multiple malformations, including mental retardation, defects of the cardiovascular system, gross metabolic changes.
The defeat of sex chromosomes, for example, trisomy on the X chromosome, can occur in girls only when they reach puberty. In this disease, gross malformations are rare, and the occurring violations of sexual differentiation can to some extent be compensated by the use of hormonal drugs. It must be understood that such therapy does not affect the hereditary apparatus of the cell (the chromosomes themselves), but helps to cope with the deviations in the physical and mental status of patients.