Down syndrome
Down Syndrome
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.
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.
Next: Signs and Symptoms of Down Syndrome »
- Amniocentesis - Learn about amniocentesis, a procedure that examines the chromosomes of the fetus to determine lung maturity, and the possiblities of birth defects.
- Leukemia - Get the facts on leukemia (cancer of the bone marrow, blood) causes, symptoms, signs, types (hairy cell, chronic/acute lymphocytic or myeloid), research, treatment information and side effects.
- Detecting Hearing Loss in Children - Read about tests used for identifying hearing loss in children, treatment information, causes, risk factors and signs of hearing impairment, and learn about degrees of hearing loss.
Latest Medical News
Kids Health RSS