Brij Shah

Down syndrome (Times New Roman 14 centered)

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Down syndrome is caused by an extra copy of chromosome 21. Then so each gene produces more protein than normal. After that the cells seem to tolerate better than not having protein at all. When having protein the Down syndrome acts due to a mutation in DNA sequence. Then producing too much protein can have serious consequences. Down syndrome affects low muscle tone, small stature, slant eyes, deep crease across palm, congenital heart defects, respiratory, and having hearing problems.
Down syndrome is caused by nondisjunction. Having pairs of 21 chromosomes fail to separate the formation of an egg or sperm. The egg units in a women’s body with a normal sperm tries to form embryo in the stages of Down syndrome. Embryo ends up with three copies of 21 instead of the normal two. The extra chromosome then copies in every cell of the baby’s body. Nondisjunction occurs more frequently in older women. The risks of having a baby with Down syndrome is greater with among mother’s age of 35 and older. Down syndrome is caused by a robertsonian translocation that occurs when the long arm has the chromosome 21 and breaks off and attaches another chromosome which is the centromere.

The symptoms with people with Down syndrome have distinct facial features. Down syndrome symptoms have a flat face, a small nose, abnormal ears, large tongue, and upward slant eyes with small folds of skin in corners. They have an increased risk of developing a number of medically significant problems. They then suffer with severe mental retardation and have trouble to walk, talk, and to take care of them.
Daily Life:

Down syndrome is diagnosed by tests for screening and diagnosed tests. Screen test identify if the mother is carrying the baby with Down syndrome. Common screens has triple tests screens and alpha fetoprotein plus. The test measures level of certain substance in blood. The alternative is ultrasounds to examine fetus in womb for physical signs. The positive result is by chorionic villus sampling, amniocentesis, and percutaneous. They take samples from the umbilical cord. Then the diagnosis is confirmed with Para type examination of the baby’s chromosomes.
There is no treatment for Down syndrome. The physical therapy or speech therapy helps people with the disease develop normally. The screening for common medical problems and corrective surgery improves quality of life. To enrich the environments will increase the capacity to learn and lead meaningful life. Doctors then do blood test to checks for extra chromosomes. Echocardiogram checks for heart defects. Other tests are ECG, X- rays, eye exams, hearing exams, dental exams, pap smears, and pelvic exams. With a person suffering with Down syndrome if the heart defects they check with physicians about antibiotics to prevent heart infections called endocarditis.

The research that has been conducted or the prevention of the disease is scientist to develop new ways to study the human brain by imaging. The imaging is a powerful tool that allows monitoring brain activities without surgeries. Imaging studies by giving new insights in auditory processing disorders. Imaging even helps with the sources of these symptoms. Scientists then study for the central auditory nervous system and cognitive neuroscientist helping with the processes with mediate sounds of recognition. Comprehension works in a normal and disorder systems are standard for determining treatment effective that patients reasonably expect to benefit from it.

Additional Facts:
Down syndrome is only trisomy for compatible life. Tromie 13 and 18 have 5% chance of surviving no longer than a one year. 90% trisomy 21 cases add additional chromosome that comes from the mother’s egg than the father’s sperm. Down syndrome is most common in a chromosomal abnormality. Down syndrome affects 1 out of every 800 to 1000 babies. The disease was originally found in 1866 by John Langdon Down. This wasn’t until 1959 that a French doctor Jerome Lejeune discovered what the caused by the inheritance of an extra chromosome 21.

Pedigree Chart:

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