What is the monosomy?

monosomy is a genetic defect caused by an incomplete set of chromosomes. Different health conditions are caused by monosomy, some more serious than others. Along with other genetic defects, monosomy can often be identified during prenatal testing, so such testing is recommended for women who are at high risk. It is certainly possible for someone to live a healthy and normal life with monosomy, as well as other people can be seriously deactivated by a condition. Aneupolidy refers to abnormality in chromosomes, leading to congenital defects or fetal inability. This is most often due to mistakes during meiosis, when chromosomes cannot properly divide due to any number of reasons. When eggs and sperm cells meet, Aneupoloida results in an incomplete set of chromosomes for the developing fetus. In other cases, there is an error during a comprehensive duplication of cells that creates a viable fetus, meaning that the defect is present in some tissues, but not in others, which is a phenomenon called moschAicism. One example of this type of monosomy is Turner's syndrome, where x chromosome is missing a complementary chromosome. A number of developments are caused by Turner syndrome, including serious problems such as congenital heart disease. However, it is also possible for patients to have a perfectly healthy life with a condition if well managed.

Sometimes part of the paired chromosome is transferred, causing partial monosomy. In this case, lack of genetic information can cause a range of problems, including Le Jeune's syndrome, which is the result of partial monosomy on Chromosome 5. The syndrome is characterized by a number of symptoms, especially malformed larynx, which causes the voice of the patient that sounds strangely high. Developmental disabilities may also be present.

Prenatal testing, such as amniocentesis, can reveal monosomy. When performing such testing, it is important to receive genetic counseling,Because the test results can be very complicated. After such testing, the doctor will usually call parents to discuss the results. The negative result suggests that no abnormalities have been detected, while a positive result suggests that a problem may be present and that parents may have to explore the different ways to deal with it. As with all medical tests, false negatives and positives occur, so parents should always follow further testing and advice before deciding how to proceed.