Major Types of Chromosomal Abnormalities

In case you are thinking about the types of chromosomal abnormalities you should know that there are several kinds of them.

They refer to the fact that something goes wrong on the chromosomal level and as a result a person could miss one or more chromosomes or have extra chromosomes.

Types of Chromosomal Abnormalities

Down syndrome

This kind of problem appears when instead of the 21st pair of chromosomes there are three chromosomes. The birth defects in this case involve mental retardations, heart defects, special facial features, problems with hearing and sight and other kinds of health problems.

Trisomy 13 and 18

This kind of chromosomal abnormality, just as in the previous case involves a trisomy, meaning that there are more chromosomes than there should be. In this case the children are affected by mental retardation and also almost all of their organs are affected. Usually the babies don’t reach the age of 1.

Turner syndrome

When it comes to the types of chromosomal abnormalities you should also think about the fact that it is possible for one of the chromosomes to be missing from the pair and this is known as monosomy. As a result, instead of 46 chromosomes, the people have only 45.

The Turner syndrome is a chromosomal abnormality kind that affects girls. They are shorter than their healthy counterparts and they are sexually less mature. The renal system and the heart can also be affected by different problems because of the condition.


In case you are thinking about the types of chromosomal abnormalities, you may also consider mosaicism. This means that a person has cells that have 46 chromosomes and also cells that have 47 chromosomes. One of the conditions of this kind is the mosaic Down syndrome.

The truth is that this one of the kinds of chromosomal abnormalities is quite rare. Only about 1%-2% of all the affected people have this kind of problem. Mosaicism is usually measured as a percentage. Doctors test 20 different cells of the baby.  For instance a baby could have mosaicism of 75%. This means that 15 out of 20 cells are affected by this abnormality.

There are a lot of types of chromosomal abnormalities that you should know about, but it is best if you don’t do too much research because this isn’t something you should worry about during your pregnancy or when you are planning a baby.


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