Chromosomal diseases: what they are and which are the most frequent

Chromosomal diseases are diseases or pathologies caused by alterations in the structure of the chromosomes present in the body’s cells. Humans, as a general rule, carry a total of 46 chromosomes (23 from the mother and 23 from the father). If an anomaly occurs during the division of chromosomes, serious problems can arise that lead to chromosomal diseases. The most common chromosomal diseases today, and therefore the most frequent, are the following:

• Down syndrome. This disease affects the number of chromosomes in the body, since people who suffer from this disease have one more chromosome than the rest, which can cause physical alterations and mental damage, although the degree of severity varies depending on the person.
• Turner syndrome. This is another of the most common diseases and, in this case, the genetic alteration is due to the total or partial absence of one of the X chromosomes, which causes lifelong sterility. It should be noted that this disease only affects women.
• Kinefelter syndrome. This disease only affects the male sex, and occurs when there are two X chromosomes and one Y. This abnormality causes hypogonadism (the absence or decrease in the function of the male testicles) and can lead to malformations and other problems in the body.

At LabGenetics, we carry out all types of disease diagnostic tests, as well as DNA and genetic identification tests. Contact us to receive more detailed information about our laboratory services in Madrid.