What is Mosaic Down syndrome?

Down syndrome or trisomy 21 refers to the presence of three instead of two 21s. Chromosomes in each of the body cells. This results in cognitive damage, slightly different appearance and risk of certain health problems or congenital defects. Mosaicism is a term used to describe a condition where people have different types of cells in the body. Mosaic Down syndrome can therefore be understood as a condition where people have some cells with Trisome 21, and some cells that have only two chromosomes #21. Doctors are looking for evidence of all cells with normal arrangement to show whether this condition is present. The number of normal cells is expressed in percentage based on trisomic cells. Measurement of 80 of 100 trisomic cells would be called 80% mosaic. The percentage may vary depending on the part of the tested body.

From a logical view, it would be wise to think that a lower percentage of mosaics would always correspond to a minor expression of Down syndrome. This does not necessarily have to be the case and does not seem to be the percentage always foredit the degree in which people are influenced. In general, many people with Mosaic Down syndrome have fewer symptoms, but this is not always the case.

Although an interesting option, Mosaic Down syndrome is sometimes as likely as the total trisomy 21 that has the following symptoms:

• damaged knowledge that can be mild to main
• characteristic appearance of smaller hands, short neck, tilted eyes, small mouths, flattened nose and shorter figures
• Great risk of congenital heart defects (about 50% of children with Down syndrome)
• A higher risk of leukemia and thyroid dysfunction
• more likely to see the vision and the problem of hearing

There are some huge differences between mosaic syndrome and standard syndrome expression. First, most cases down are diagnosed before or at birth. Mosaicism may not be diagnosed until childrenare not between 1 and 4 ..

A child with a trisomy 21 or a mosaic Down syndrome has many difficult things to overcome. These children may need more medical intervention than a child without a third #21 chromosome and also benefits from time to time. Despite the shortcomings accompanying this condition, many of these children can follow well, to some extent to get to a certain point in the school environment and hold employment as adults, while living independently or half of the environment.