Down Syndrome – Signs And Indications

September 4, 2010   Filed under pregnancy

Down syndrome, an illness caused mainly because of an abnormality in the genes, occurs due to an inaccurate process of cell partition. The actual number of chromosomes in all body cells is supposed to be 46. In this case, with the addition of another 21st chromosome, this illness of Down syndrome takes place.

This condition causes cognitive and physical impairments in the child. Such developmental disabilities can also be detected earlier, even when the baby has not been born yet, with the help of ultrasound and other screenings.

Usually the age of the mother leads to the highest probability of resulting in Down syndrome. The following are three categories of it:

The most commonly acquired type is that of trisomy 21, which is faced by around 95% of babies who have this condition. In this case, each baby has an additional chromosome, totaling to 47 chromosomes in each cell.

This condition occurs prior or during the occurrence of conception, due to cell division not taking place correctly. It leads to more than one copy of the chromosome number 21.

The second kind of Down syndrome is called mosaicism, occurring in approximately 1-2% of people with this problem. As this arises after fertilization has happened, it leads to a few cells with 46 chromosomes, while some having 47. The factor that leads to mosaicism taking place is a mistake in the partition of the 21st chromosome.

The last type is known as translocation occurring in 3-4% of people who experience Down syndrome. A portion of the 21st chromosome breaks and separates from it, and joins another one. The other chromosome is usually the 14th chromosome. An important factor why translocation happens is when one of the parents has an abnormal setting in his or her genetic material.

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