Down’s syndrome is a chromosomal abnormality that results in a mental handicap and a recognized physical appearance. It’s original name was mongolism as the appearance of affected people resembled Mongolian. Researchers discovered in 1959 one too many chromosomes 47 instead of 46. Also the chromosome affected is number 21 so it later was called trisomy 21.
Folds of skin on either side of the nose covering inner corner of eyes
Small face and features
Tongue is large and tends to protrude
Flattened back to head
Short and broad hands
Mental handicap varies
Friendly and cheerful
Some have heart defects at birth
Higher risk for intestinal atresia
Congenital hearing defects and ear infections
Higher risk for acute leukemia
In adults with Down’s syndrome greater risk to atherosclerosis
The reason’s for the chromosomal abnormality is mostly because the two number 21 chromosomes in the parent cell goes into daughter cells during the first stage of sperm or egg cell formation. If these are used during fertilization the result is Down’s syndrome. Seems more likely in women over 35 suggesting that egg formation is more a cause than sperm formation. The less common cause is a chromosomal disorder in either parent known as translocation where the number 21 chromosome has joined with another chromosome leaving them to pass it on to their children.
The incidence of affected babies grow as the age women becoming pregnant increases to over 35. Tests can be run during the pregnancy for Down’s syndrome. A chromosome analysis of fetus cells can be done after amniocentesis or chorionic villus sampling . The parents will have choice of termination of the pregnancy or prepare for caring for the handicap child.
There is no cure. The child can make the most out of life with constant education and environmental stimulation. Some children must be institutionalized. Most Down’s syndrome children are happiest in a warm loving family that is sympathetic to their needs. The advances in technology have increased their chances of survival past the teen years. They now can survive until early middle age and live a close to normal life as it is possible with their handicap.