Q90.2: Trisomy 21, translocation

You have Down’s syndrome.

Down’s syndrome is congenital. This involves having one chromosome more than usual. Instead of 2 copies of chromosome 21, you have 3 copies of chromosome 21. Down syndrome is therefore also known as Trisomy 21. In some cases, only a part of chromosome 21 is present three times.

When beginning its development, every single cell in the body contains a complete blueprint of the body. This blueprint consists of genetic information. The genetic information is encrypted in the chromosomes. Every human cell normally contains 23 chromosome pairs, i.e. a total of 46 chromosomes.

Down syndrome can vary in its severity. Children with Down syndrome can have various visible features in the face or the ears, for example. You can be smaller than your peers or gain weight too quickly. You may not be able to see and hear so well. You may also have problems when speaking. Your mental faculties may be impaired. You can be particularly sociable and readily approach other people.

You may have problems with your heart or bowels. You can have constipation. You can be more prone to having diseases of the respiratory tract. You may also find it difficult to breathe at night. You may find it more difficult to run and have problems with your muscles. You may also have skin problems. You can also have problems with the thyroid gland.