What is generally the result of monosomy of an autosome?

1 answer

Monosomy of an autosome, which refers to the presence of only one copy of a particular autosome instead of the normal two, usually results in severe developmental issues and is often not compatible with life. Most autosomal monosomies are fatal and lead to early miscarriage or stillbirth.

One of the few exceptions is Turner syndrome, which is a condition related to the monosomy of the X chromosome (specifically in females, where they have only one X chromosome instead of two), but as for autosomes, there are no well-known viable monosomies in humans.

In summary, autosomal monosomy typically leads to significant health complications and is generally lethal.