Monosomy [Ono- + (Chromo)Som]

Monosomy is a genetic abnormality characterized by the absence of one of the two copies of each of the 23 chromosomes in the karyotype. This can be caused by various factors, such as a mutation in one of the chromosomes, loss or disruption of the transmission of a chromosome from one parent to the other during meiosis, or disruption of cell division.

Monosomy can lead to various diseases and pathologies, including Down syndrome, Turner syndrome, Klinefelter syndrome, Patau syndrome and others. Additionally, monosomy can cause infertility, miscarriages, pregnancy complications, and other health problems.

To diagnose monosomy, karyotype analysis is used - a study of the chromosome set of cells. In the case of monosomy, the karyotype shows the absence of one chromosome in the set. Treatment for monosomy depends on the specific condition and may include medication, surgery, or other treatments.

It is important to note that monosomy is one of the most common genetic disorders in the world. However, thanks to modern technologies such as preimplantation genetic diagnosis and genetic testing during pregnancy, many women can avoid having monosomy children.

Monosomy [Ono- + (Chromo)Som]: Absence of one of the chromosomes in the diploid set

In the world of genetics, there are various anomalies associated with disturbances in the structure and number of chromosomes. One of these anomalies is monosomy, which is characterized by the absence of one of the chromosomes in the diploid set. The term "monosomy" comes from the Greek words "mono" (one) and "som" (chromosome).

A diploid set of chromosomes consists of two copies of each chromosome, which is usually denoted as 2n, where n is the number of chromosomes in the haploid set. However, individuals with monosomy are missing one of the chromosomes, which can lead to various physical and pathological consequences.

Monosomies can be caused by a variety of factors, including genetic mutations or random errors during cell division during embryonic development. The most well-known cases of monosomy are Turner (45,X), Klinefelter (47,XXY) and Edwards (trisomy 18) syndromes, where one or more chromosomes are missing.

The symptoms and consequences of monosomy can vary and depend on the specific chromosome that is missing from the set. Some forms of monosomy can lead to serious medical problems and developmental disabilities, while other forms of monosomy may be more tolerant and have less of an impact on an individual's health.

The diagnosis of monosomy can be made using a variety of genetic tests, including cytogenetic analysis and molecular genetics. Early diagnosis and intervention may be important to improve prognosis and manage potential problems associated with monosomy.

Although monosomy is a genetic disorder, researchers and medical professionals are currently working to develop new treatments and support for individuals with this condition. Research in genetics and molecular biology is providing insight into the mechanisms associated with monosomy and opening up opportunities for future therapeutic approaches.

In conclusion, monosomy is the absence of one of the chromosomes in the diploid set and can have a significant impact on the health and development of an individual. Understanding this genetic disorder is important in providing support and care for individuals with monosomy. Further research in this area may lead to the development of new methods of diagnosis, treatment and improvement of quality of life for patients with monosomy.