monosómia

Monosomy is a type of aneuploidy in which an individual is missing one chromosome from a pair. In a typical diploid organism, there are two copies of each chromosome. In monosomy, only one copy of a particular chromosome is present. This condition can affect any chromosome, but it is often incompatible with life.

The most common example of monosomy in humans is Turner syndrome, which results from the absence of all or part of one X chromosome in females. Individuals with Turner syndrome may experience a range of symptoms, including short stature, infertility, and heart defects. Other forms of monosomy, such as those involving autosomes (non-sex chromosomes), are usually lethal and result in spontaneous abortion or miscarriage.

Monosomy can arise from errors during gamete formation (meiosis) or during early embryonic development. These errors can lead to a gamete with an incorrect number of chromosomes, which then results in a zygote with an abnormal chromosomal complement. The consequences of monosomy depend on which chromosome is affected and the extent to which it is present. While some forms are survivable, they often lead to significant health challenges.