Down Syndrome

(Trisomy 21)

What are trisomies?

The term "trisomy" is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have "trisomy 21." Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) present in each cell of the body, rather than the usual pair.

To answer some questions you may have about a child with Down syndrome, visit the Frequently Asked Questions page in the Genetics Resources.

What is Down syndrome?

Down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects, visual and hearing impairment, and other health problems. The severity of all of these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies. In this country, there are more than 350,000 individuals with Down syndrome, according to the National Down Syndrome Society. Life expectancy among adults with Down syndrome is about 55 years, though average lifespan varies.

The name "Down syndrome" comes from the physician, Dr. Langdon Down, who first described the collection of findings in 1866. It was not until 1959 that the cause of Down syndrome (the presence of an extra #21 chromosome) was identified.

What causes Down syndrome?

Normally in reproduction, the egg cell of the mother and the sperm cell of the father start out with the usual number of 46 chromosomes. The egg and sperm cells undergo cell division where the 46 chromosomes are divided in half and the egg and the sperm cells end up with 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby ends up with a complete set of 46 chromosomes, half from the father and half from the mother.

Sometimes, an error occurs when the 46 chromosomes are being divided in half and an egg or sperm cell keeps both copies of the #21 chromosome instead of just one copy. If this egg or sperm is fertilized, the baby ends up with three copies of the #21 chromosome and this is called "trisomy 21" or Down syndrome. The features of Down syndrome result from having an extra copy of chromosome 21 in every cell in the body.

Ninety-five percent of Down syndrome results from trisomy 21. Occasionally, the extra chromosome 21 or a portion of it is attached to another chromosome in the egg or sperm; this may result in what is called "translocation" Down syndrome (3 to 4 percent of cases). This is the only form of Down syndrome that can sometimes be inherited from a parent. Some parents have a rearrangement called a balanced translocation, where the #21 chromosome is attached to another chromosome, but it does not affect his/her health. Rarely, a form of Down syndrome called "mosaic" Down syndrome may occur when an error in cell division occurs after fertilization (1 percent to 2 percent of cases). These persons have some cells with an extra chromosome 21 and others with the normal number.

How is Down syndrome diagnosed?

Since Down syndrome is such a unique group of characteristics, physicians can sometimes determine simply by physical examination whether a baby has Down syndrome. To confirm the physical findings, a small blood sample can be taken and the chromosomes can be analyzed to determine the presence of extra #21 chromosome material. This information is important in determining the risk in future pregnancies. (Translocation Down syndrome and mosaic Down syndrome have different recurrence risks).

Chromosomal abnormalities such as Down syndrome can often be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of Down syndrome, but ultrasound is not 100 percent accurate, since many babies with Down syndrome may look the same on ultrasound as those without Down syndrome. A chromosome analysis, whether performed on a blood sample, cells from the amniotic fluid, or placenta, is over 99.9 percent accurate.