Sometimes, during meiosis, chromosomes may be lost, left behind, or too many may be passed on, resulting in the birth of a child with a genetic or congenital defect or disease. One of the most common of these genetic disorders is Down syndrome. This disorder takes its name from Dr. Langdon Down, who was the first to describe it formally, in 1866. .
Down syndrome occurs when there is an abnormality in chromosome 21. It is found in approximately 1 out of 1000 all live births. Scientists assume that the reason for the abnormal chromosomal combination is the fertilization of an ovum having 24 chromosomes by a sperm with a normal assortment of 23, but they have also found that the sperm can carry the extra chromosome as well. The abnormal ovum or sperm is derived from a germ cell in which the pair of 21st chromosomes holds together and passes into the same sperm or ovum instead of separating.
WHAT IS DOWN SYNDROME?.
There are three main types of Down syndrome. The vast majority of children with Down syndrome, approximately 95 percent, have an extra 21 chromosome. Instead of the normal number of 46 chromosomes in each cell, the individual with Down syndrome has 47 chromosomes. This condition is called trisomy 21. The second type is called tran slocation since the extra 21 chromosome is attached or translocated on to another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child w ith Down syndrome, the parents' chromosomes are usually examined, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in 3 - 4 percent of the individuals with Down syndrome. Another chromosome problem, called mosaicism, is noted in about 1 percent of individuals with Down syndrome. In this case, some cells have 47 chromosomes and others have 46 chromosomes. Mosaicism is thought to be the result of an error in cell division soon after conception.
