Klinefelter Syndrome Chromatin-negative

Klinefelter's chromotinatriptic syndrome is a genetic disorder caused by a chromosome imbalance in men. It is characterized by impaired development of the genital organs and testicular functionality, which leads to a decrease in hormone levels and impaired spermatogenesis.

This disease was first described in 1942 by the American physician John H. Kleinfeldt. The disorder was considered rare at the time, but its incidence has increased over time due to improved diagnosis and increased infant survival.

The syndrome is characterized by an increase in the number of X chromosomes instead of Y or a lack of both sex chromosomes, which disrupts the normal development of reproductive organs.

Klinefelter syndrome is a genetic disease that is associated with a violation of the karyotype in humans. A karyotype is a complete set of chromosomes in a cell that determines a person’s genetic characteristics, health, appearance and behavior. In Klinefelter syndrome, a person's karyotype includes an extra sex chromosome rather than two or three sets of 46 chromosomes as is normal. Instead, the chromosome set consists of one set of 23 chromosomes (XXY), two sets of 33 chromosomes, or one or more of these combinations.

Why is it so important to know about this syndrome? This is because many people may not realize that they have any genetic abnormalities, and this can have health and life consequences. In addition, there is a high probability of having a child with this syndrome in a mother whose chromotypes X do not exceed 11 or Y (for example, 9 X 21 and 2 X).

The symptoms of Klinefeldt syndrome vary and depend on the level of chromosomal redundancy. For men, it is characterized by short stature combined with a deep voice, lack of facial and body hair, corpulent muscles and poor sexual development. Symptoms in women may include slow growth, mild developmental delays and birth defects.

Although in Russia the number of registered patients with Kleinfeldta syndrome is about 50 cases per 1 million children, studies are now available confirming that half of the population has a mosaic genotype. Thanks to a new method of microarray analysis of Y-crystals of Y-microchips, it has been established that

Klinefelter chromatonitrate syndrome is a genetic disease, the characteristic feature of which is an increase in the number of sex chromosomes in the male line of inheritance. However, with this pathology there are other abnormalities, such as abnormal development of internal organs and tissues, problems with the development of intelligence, mental disorders, disturbances in the functioning of the immune system, and others.

Klinefelter is a fairly rare disease and occurs in 1 in 700 to 1400 newborn boys. The name of this syndrome comes from the name of the American scientist Joseph