Although the cells appear to tolerate this better than having not enough protein, or having altered protein due to a mutation in the DNA sequence, producing too much protein can also have serious consequences, as manifested in Down syndrome. It has been identified that genes on chromosome 21 that specifically contribute to the diverse symptoms of Down syndrome. Today, down syndrome is the most common genetic disorder caused by a chromosomal abnormality that affects one out of every eight hundred to one thousand born in this world.
Common Symptoms of Down Syndrome Disorder
Facial features such as flat face, small broad nose, abnormally shaped ears, large tongue, and upward slanting eyes with small folds of skin in the corners are common in people with Down syndrome. A number of medical significant problems may develop in people with Down syndrome such respiratory infections, gastrointestinal tract obstruction, leukemia, heart defects, hearing loss, hypothyroidism, and various eye abnormalities. Children with Down syndrome exhibit moderate to severe mental retardation, more slowly than their peers, having trouble learning to walk, talking and taking care of themselves. About half live to be 50 years of age because of the medical problems that cause decreased life expectancy.
Scientifically, the major ground of Down syndrome is characteristically caused by what is called nondisjunction wherein a pair of number 21 chromosomes falls short to split during the formation of an egg (or sperm). When that egg unites with a normal sperm to form an embryo, that embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby’s body. Captivatingly, nondisjunction events appear to occur more frequently in older women that is why the menace of having a baby with Down syndrome is greater among mothers age 35 and older. Rarely, Down syndrome is caused by a Robertsonian translocation, which occurs when the long arm of chromosome 21 breaks off and attaches to another chromosome at the centromere. The carrier of such a translocation will not have Down syndrome, but can produce children with Down syndrome.
The existence of cure for Down syndrome is still unrealized. There are alternative medications such like the physical therapy and/or speech therapy which can help people with the disorder develop more normally and stress free. Intensive screening for common medical and psychological problems associated with the disorder, followed by corrective surgery, can often improve quality of life. Furthermore, enriched environments significantly increase their capacity to learn and pilot a meaningful life. Nowadays, there are lots of special education centers that cater the basic needs of children with Down syndrome. With the constant support of their parents, multiple complications will be avoided that can cause serious injury or death.