Facts About Down Syndrome (page 2)
Named after John Langdon Down, the first physician to identify the syndrome, Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all races and economic groups. Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or "trisomy 21."
The Chromosomal Basis of Down Syndrome
To understand why Down syndrome occurs, the structure and function of the human chromosome must be understood. The human body is made of cells; all cells contain chromosomes, structures that transmit genetic information. Most cells of the human body contain 23 pairs of chromosomes, half of which are inherited from each parent. Only the human reproductive cells, the sperm cells in males and the ovum in females, have 23 individual chromosomes, not pairs. Scientists identify these chromosome pairs as the XX pair, present in females, and the XY pair, present in males, and number them 1 through 22.
When the reproductive cells, the sperm and ovum, combine at fertilization, the fertilized egg that results contains 23 chromosome pairs. A fertilized egg that will develop into a female contains chromosome pairs 1 through 22, and the XX pair. A fertilized egg that will develop into a male contains chromosome pairs 1 through 22, and the XY pair. When the fertilized egg contains extra material from chromosome number 21, this results in Down syndrome.
THE GENETIC VARIATIONS THAT CAN CAUSE DOWN SYNDROME
Three genetic variations can cause Down syndrome. In most cases, approximately 92% of the time, Down syndrome is caused by the presence of an extra chromosome 21 in all cells of the individual. In such cases, the extra chromosome originates in the development of either the egg or the sperm. Consequently, when the egg and sperm unite to form the fertilized egg, three--rather than two--chromosomes 21 are present. As the embryo develops, the extra chromosome is repeated in every cell. This condition, in which three copies of chromosome 21 are present in all cells of the individual, is called trisomy 21.
In approximately 2-4% of cases, Down syndrome is due to mosaic trisomy 21. This situation is similar to simple trisomy 21, but, in this instance, the extra chromosome 21 is present in some, but not all, cells of the individual. For example, the fertilized egg may have the right number of chromosomes, but, due to an error in chromosome division early in embryonic development, some cells acquire an extra chromosome 21. Thus, an individual with Down syndrome due to mosaic trisomy 21 will typically have 46 chromosomes in some cells, but will have 47 chromosomes (including an extra chromosome 21) in others. In this situation, the range of the physical problems may vary, depending on the proportion of cells that carry the additional chromosome 21.
In trisomy 21 and mosaic trisomy 21, Down syndrome occurs because some or all of the cells have 47 chromosomes, including three chromosomes 21. However, approximately 3-4% of individuals with Down syndrome have cells containing 46 chromosomes, but still have the features associated with Down syndrome. How can this be? In such cases, material from one chromosome 21 gets stuck or translocated onto another chromosome, either prior to or at conception. In such situations, cells from individuals with Down syndrome have two normal chromosomes 21, but also have additional chromosome 21 material on the translocated chromosome. Thus, there is still too much material from chromosome 21, resulting in the features associated with Down syndrome. In such situations, the individual with Down syndrome is said to have translocation trisomy 21.
The Occurrence of Down Syndrome
Most of the time, the occurrence of Down syndrome is due to a random event that occurred during formation of the reproductive cells, the ovum or sperm. As far as we know, Down syndrome is not attributable to any behavioral activity of the parents or environmental factors. The probability that another child with Down syndrome will be born in a subsequent pregnancy is about 1 percent, regardless of maternal age.
The incidence of Down syndrome rises with increasing maternal age.
For parents of a child with Down syndrome due to translocation trisomy 21, there may be an increased likelihood of Down syndrome in future pregnancies. This is because one of the two parents may be a balanced carrier of the translocation. The translocation occurs when a piece of chromosome 21 becomes attached to another chromosome, often number 14, during cell division. If the resulting sperm or ovum receives a chromosome 14 (or another chromosome), with a piece of chromosome 21 attached and retains the chromosome 21 that lost a section due to translocation, then the reproductive cells contain the normal or balanced amount of chromosome 21. While there will be no Down syndrome associated characteristics exhibited, the individual who develops from this fertilized egg will be a carrier of Down syndrome. Genetic counseling can be sought to find the origin of the translocation.
However, it is important to realize that not all parents of individuals with translocation trisomy 21 are themselves balanced carriers. In such situations, there is no increased risk for Down syndrome in future pregnancies.
Researchers have extensively studied the defects in chromosome 21 that cause Down syndrome. In 88% of cases, the extra copy of chromosome 21 is derived from the mother. In 8% of the cases, the father provided the extra copy of chromosome 21. In the remaining 2% of the cases, Down syndrome is due to mitotic errors, an error in cell division which occurs after fertilization when the sperm and ovum are joined.
DOWN SYNDROME AND MATERNAL AGE
Researchers have established that the likelihood that a reproductive cell will contain an extra copy of chromosome 21 increases dramatically as a woman ages. Therefore, an older mother is more likely than a younger mother to have a baby with Down syndrome. However, of the total population, older mothers have fewer babies; about 75% of babies with Down syndrome are born to younger women because more younger women than older women have babies. Only about nine percent of total pregnancies occur in women 35 years or older each year, but about 25% of babies with Down syndrome are born to women in this age group.
The incidence of Down syndrome rises with increasing maternal age. Many specialists recommend that women who become pregnant at age 35 or older undergo prenatal testing for Down syndrome. The likelihood that a woman under 30 who becomes pregnant will have a baby with Down syndrome is less than 1 in 1,000, but the chance of having a baby with Down syndrome increases to 1 in 400 for women who become pregnant at age 35. The likelihood of Down syndrome continues to increase as a woman ages, so that by age 42, the chance is 1 in 60 that a pregnant woman will have a baby with Down syndrome, and by age 49, the chance is 1 in 12. But using maternal age alone will not detect over 75% of pregnancies that will result in Down syndrome.
RELATIONSHIP OF DOWN SYNDROME INCIDENCE TO MOTHERS' AGE
Incidence of Down Syndrome
|Under 30||Less than 1 in 1,000|
|30||1 in 900|
|35||1 in 400|
|36||1 in 300|
|37||1 in 230|
|38||1 in 180|
|39||1 in 135|
|40||1 in 105|
|42||1 in 60|
|44||1 in 35|
|46||1 in 20|
|48||1 in 16|
|49||1 in 12|
Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age.
Reprinted with the permission of the National Institute of Child Health and Human Development.
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