Mosaic Down syndrome, or mosaicism, is a rare form of down syndrome. People with this type may decrease symptoms of down syndrome. Down syndrome is a genetic disorder resulting in an additional copy of Chromosome 21. People with Mosaic Down syndrome have a mixture of cells.
Some have two copies of chromosomes 21, and some have three. Mosaic Down syndrome occurs in about 2 percent of all down syndrome cases. People with Mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal.
Mosaic down syndrome symptoms Irregular chromosomes copies replace the child’s genetic structure, which ultimately affect their mental and physical development. People with Down syndrome usually have the following symptoms: slow speech low intellect a flat face small ears small height eyes that lean white spots on the put of the eye Down syndrome sometimes occurs with many other health problems, including: Sleep apnea, a health condition due to which you stop breathing temporarily when you sleep infection of the ear immune disorders deafness heart fault blightness lack of vitamin
These symptoms are also common in people with Mosaic Down syndrome. However, these symptoms may decrease in them. For example, people with Mosaic Down syndrome have IQs usually higher than people with other forms of Down syndrome. diagnosis Doctors can test for a down syndrome checking during pregnancy.
These tests show the possibility that the fetus will have a down syndrome and health problems can be quickly identified. screening test Screening tests for down syndrome are offered as a regular test during pregnancy. They are generally provided during the first and second quarter. These screens measure hormone levels in the blood to detect abnormalities and use ultrasound to see the creation of irregular fluids in the baby’s neck. Screening tests only provide the possibility of developing down syndrome in the child. It can’t diagnose down syndrome.
![Mosaic-Down-Syndrome](https://timesnewsbulletin.com/wp-content/uploads/2024/02/Msd.jpeg)
However, they can determine if more tests are needed to confirm the diagnosis. clinical test Clinical tests can confirm if your child has a down syndrome already before birth. The two most common clinical tests are chorionic Willas sampling and amniocentesis. Both testing take samples from uterus to analyse chromosomes. Chorionic Willas Sampling uses a sample of Placenta to do this. This test can be completed in the first quarter. Amniocentesis analyzes the amniotic fluid samples around the growing fetus. This test is usually performed in the second quarter. Mosaic Down syndrome is usually described via percentage.
To confirm the Mosaic Down syndrome, the doctor will analyse chromosomes from 20 cells. If 5 cells have 46 chromosomes and 15 have 47 chromosomes, a child has a positive diagnosis of mosaic down syndrome. In this case, the level of mozekism in the infant will be 75 percent. Outlook There is no cure for Mosaic Down syndrome. Parents can detect the situation before birth and prepare for any related birth defects and health complications. Life expectancy of people with down syndrome is much higher than before.
Now they can be expected to live up to over 60 years of age. Moreover, people with initial physical, speech and professional treatment down syndrome can provide high quality of life and improve their intellectual abilities.
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