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 Mosaic Down Syndrome Symptoms

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RašytiTemos pavadinimas: Mosaic Down Syndrome Symptoms   19/08/11, 10:23 am

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Mosaic Down syndrome is a genetic disorder that accounts for about 2 to 4% of the total cases of Down Syndrome. In Down syndrome, every cell of the affected person contains an extra chromosome, i.e. in total 47 chromosomes instead of 46 chromosomes. But, the people affected with mosaic Down syndrome contain two types of cell. One type of cells are normal with 46 individual chromosomes (or 23 pairs of chromosomes), while other type of cells contain an extra copy of chromosome 21, i.e. in total 47 chromosomes. Such a chromosomal problem can stem from early developmental stage, when a single fertilized egg cell divides and creates multiple cells. More information on genetic disorders.

How Does Mosaic Down Syndrome Happen?
To explain how does mosaic Down syndrome occur, we have to go back to the early developmental stage, when a single fertilized egg cell undergoes cell multiplication to create a number of different types of cells. The fertilized egg or the zygote contains 23 pairs or 46 individual chromosome, half of which comes from the sperm cell and the other half from the unfertilized egg cell. As the single fertilized egg cell divides to form two cells, then four cells, and so on, the 46 individual chromosomes also undergo replication and separation, so that, each newly created cell contains the exact number of 46 chromosomes. But, if an error takes place in the process of chromosomal replication and separation, it can result in generation of an extra copy of chromosome 21 in one cell. From here, all cells that are formed from this particular cell contain an extra copy of chromosome 21.

There is another possibility that the sperm or the egg cell could have contained an extra chromosome 21. But, at the time of cell division, when the chromosomes replicate and separate, this extra copy of chromosome is not passed on to both the cells that develop from the fertilized egg. Instead, the extra chromosome is passed only to one cell and hence all the cells that originate from that particular cell contain 47 chromosomes, while those originating from the normal cell contain 46 chromosomes. On the other hand, in the case of Down syndrome, the extra copy of chromosome 21 is passed on to both the cells, so that all body cells formed from them contain 47 chromosomes. More on history of Down syndrome and treatment for Down syndrome.

Mosaic Down Syndrome Symptoms
The presence of an extra chromosome in some cells can produce a number of peculiar physical characteristics and also affect the cognitive abilities of the affected person. The most commonly observed mosaic Down syndrome characteristics are a flat nasal bridge, abnormally small chin, which is termed as microgenia, epicanthic skin fold on the inner corner of the eyes, a protruding tongue, a short neck, poor muscle tone, white spots on the iris, excessive space between the large and the second toe, short limbs, a single knuckle on the fifth finger and flat and straight hair. Apart from these, one of the most important mosaic Down syndrome features is, that people affected with this disorder can have a very round face with a broad head. However, mosaic Down syndrome symptoms can vary significantly from person to person. Some people have all of these characteristics, while others can have only a few of them. Besides, the presence of an extra chromosome can manifest itself in several different ways and affect any organ of the body.

Mild to moderate level of mental retardation is observed in both Down and mosaic Down syndrome, though the extent of retardation can vary. Some studies have found that individuals affected with mosaic Down syndrome can have a higher IQ than those having Down syndrome. Usually, IQ for the individuals with Down syndrome ranges from 50 to 70 (mild mental retardation) and 35 to 50 (moderate retardation). But, mosaic Down syndrome IQ can be 10 to 30 points higher that the IQ for Down syndrome. This may be due to the presence of cells with normal number of chromosomes, which in turn, may reduce the severity of Down syndrome. But, the health issues related with mosaic Down syndrome can be similar to those of Down syndrome, which include, an increased risk for congenital heart disease, thyroid disorders, vision and hearing problems, gastroesophageal reflux disease, Alzheimer's disease and obstructive sleep apnea. More information on the characteristics of Down syndrome.

Mosaic Down syndrome diagnosis requires genetic testing of blood, which is generally done at the time of birth or during pregnancy through amniocentesis or chorionic villus sampling (CVS). Typically, the number of chromosomes in about 20 to 25 different cells are counted. If the result shows that some cells contain 47 chromosomes, while others contain the normal 46 chromosomes, then it is referred as mosaic Down syndrome or simply, mosaicism, which is normally described in percentage. The percentage of mosaicism is estimated on the basis of the number of cells affected by it out of the total number of cells counted. As for example, if 25 cells are counted, and out of them only 5 are normal cells that contain 46 chromosomes, while the other 20 cells contain 47 chromosomes, then the level of mosaicism is 80%. Read more on

* Down Syndrome Facts
* Causes of Down Syndrome
* Cures for Down Syndrome

With proper treatment like physical and mental therapy, special educational programs and vocational training as well as parental support, the mental and cognitive abilities of the children affected with Down and mosaic Down syndrome can be improved. So, what is important is to remove any kind of social stigma and discrimination towards this section of the society and help them to improve their quality of life. Identifying the mosaic Down syndrome symptoms and early medical intervention, can play an important role in achieving maximum benefits from the various types of treatment options available for such disorders.
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