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A chromosome disorder is when someone has a problem with one or more of their chromosomes. This could be a change in the number of their chromosomes; a missing or extra piece of a chromosome or one or more of their chromosomes arranged in a different way.

What is it like for siblings if their brother or sister has a chromosome disorder?

Siblings often get on really well with their brothers and sisters who have a chromosome disorder. However, siblings might find it hard to get information about the chromosome disorder which their brother or sister has. This can make them feel worried as they want to understand things. They may worry about what will happen to their brother or sister in the future and who will look after them.

What causes a chromosome disorder?

Bodies are made up of millions of tiny cells. Inside the cells are tiny parts called chromosomes. Chromosomes carry information from parents to babies such as eye or hair colour. They are so small that they can only be seen using a microscope.

There are 23 pairs of chromosomes in a human, so 46 all together. Everyone has a set of chromosomes from their father and a matching set from their mother. If a person does not have the exact number of chromosomes or there is something wrong with their chromosomes, then this is a chromosome disorder. It is something that a person is born with.

What does it mean?

There are lots of different types of chromosome disorders. For healthy development, there should be just the right amount of chromosome material – not too much and not too little. People will be affected in different ways depending upon which chromosomes are affected. The most common things affecting people with chromosome disorders are their bodies working differently. They may have a learning disability and their health or behaviour may be affected.

What treatment is there?

Chromosome disorders cannot be cured but people who have them can be helped to cope better with them.


This information has been approved by Unique – The Rare Chromosome Disorder Support Group, July 2018