Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21.
The type of error is called nondisjunction (pronounced non-dis-JUHNGK-shuhn). Usually when one cell divides in two, pairs of chromosomes are split so that one of the pair goes to one cell, and the other from the pair goes to the other cell. In nondisjunction, something goes wrong and both chromosomes from one pair go into one cell and no chromosomes for that pair go into the other cell.
Most of the time, the error occurs at random during the formation of an egg or sperm. To date, no behavioral activity of the parents or environmental factor is known to cause Down syndrome.1,2
After much research on these cell division errors, researchers know that2:
- In more than 90% of cases, the extra copy of chromosome 21 comes from the mother in the egg.
- In about 4% of the cases, the father provides the extra copy of chromosome 21 through the sperm.
- In the remaining cases, the error occurs after fertilization, as the embryo grows.
Chromosomal Changes that can Cause Down Syndrome
Research shows that three types of chromosomal changes can lead to Down syndrome.
- Complete trisomy 21. In this case, an error during the formation of the egg or the sperm results in either one having an extra chromosome. So after the egg and sperm unite, the resulting cells will also have three copies of chromosome 21. The complete extra copy of chromosome 21 is in all of the person's cells—or a complete trisomy. Complete trisomy 21 is the cause of about 95% of Down syndrome cases.1,2,3
- Mosaic trisomy 21. Not every cell in the body is exactly the same. In about 1% of Down syndrome cases, most of the cells in the body have the extra chromosome, but some of them don't. This is called "mosaicism." Mosaic trisomy 21 occurs when the error in cell division takes place early in development but after a normal egg and sperm unite. The symptoms of someone with mosaic trisomy 21 may vary from those of someone with complete trisomy 21, depending on how many cells have the extra chromosome.1,2
- Translocation trisomy 21. In this type of chromosomal change, only part of an extra copy of chromosome 21 is in the cells. The extra part of the chromosome gets "stuck" to another chromosome and gets transmitted into other cells as the cells divide. This type of change causes about 4% of Down syndrome cases. In certain situations, Down syndrome from a translocation could be passed from one generation to the next, or inherited. A genetic counselor can assist families affected by translocation trisomy 21 in understanding the risk of Down syndrome in future pregnancies.1,2,3
- NDSS. (n.d.). What causes Down syndrome? Retrieved June 11, 2012, from http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/ [top]
- Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R. E., et al. (2010). Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Research. Part A, Clinical and Molecular Teratology, 88, 1008–1016. [top]
- Genetic and Rare Diseases Information Center (GARD). (2012). Down syndrome. Retrieved June 11, 2012, from http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=10247 [top]