Monosomy is a genetic defect caused by an incomplete set of chromosomes that can lead to various medical conditions. It can be identified during prenatal testing and can result in developmental disabilities. Genetic counseling is recommended for high-risk women.
Monosomy is a genetic defect caused by an incomplete set of chromosomes. Various medical conditions are caused by monosomy, some more serious than others. Along with other genetic defects, monosomy can often be identified during prenatal testing, which is why such testing is recommended for high-risk women. It is certainly possible for someone to live a normal, healthy life with monosomy, just as other people can be severely disabled by the condition.
Like other chromosomal defects, monosomy is considered a type of aneuploidy. Aneupolidia refers to an abnormality in chromosomes, leading to birth defects or fetal non-viability. It is most often caused by errors during meiosis, when chromosomes fail to divide properly for any number of reasons. When oocytes and sperm meet, aneupoloidy results in an incomplete set of chromosomes for the developing fetus. In other cases, the error occurs during the complex cell duplication that creates a viable fetus, meaning that the defect is present in some tissues but not in others, a phenomenon called mosaicism.
In complete monosomy, one side of a pair of chromosomes is simply missing. An example of this type of monosomy is Turner syndrome, in which the X chromosome lacks a complementary chromosome. A number of developmental disabilities 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 the condition, as long as it is well managed.
Sometimes, part of a mating chromosome is transferred, causing partial monosomy. In this case, the lack of genetic information can cause a number of problems, including Le Jeune syndrome, the result of a partial monosomy on chromosome 5. The syndrome is characterized by a number of symptoms, most notably a malformed larynx that makes the patient’s voice sound strangely high-pitched. Developmental disabilities may also be present.
Prenatal tests such as amniocentesis can reveal monosomy. It is important to get genetic counseling when doing such tests, as the test results can be very complicated. After such a test, a doctor will typically call the parents to discuss the results. A negative result indicates that no abnormalities were found, while a positive result suggests that a problem may exist and parents may need to explore various options for addressing it. As with all medical tests, false negatives and positives do occur, so parents should always undergo further testing and counseling before making a decision on how to proceed.
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