The cause of Down's syndrome:
Well, the story starts like that: There happens an error in cell division which is called nondisjunction. Here the chromosome 21 of the human genome doesn't divide properly and this results in an additional chromosome 21 in the genome of an embryo.
There are three types of trisomy 21, where either a whole extra chromosome is placed into a sperm or eggcell, which results in 3 chromosomes of the same kind. We call this complete trisomy 21.
Another case is mosaic trisomy 21, where there was a correct number of chromosomes when sperm and egg united but shortly afterwards disjunction happened so that part of the cells carry an extra chromosome 21. The third case would be translocation trisomy 21, where just a section of the chromosome is added to a full set of chromosomes and is by cell division copied into the other cells.
The symptomes:
There are two kinds of impairment to notice for Down's syndrome:
Physically, there are multiple things, which can cause difficulties for people with Down's syndrome. These include a poor muscle tone, short necks, excess skin on the neck, a flattened facial profile, small ears, eyes and mouth, upward slanting eyes, white spots in coloured parts of the eye. Additionally they have wide hands, which are short and short fingered, and which also include a deep crease across the palm. About there toes there is to notice a deep groove between first and second toe.
Also mentally there are some impairments in spite of the impairment of movement, which also exists. They have most times a slowliness in thinking and learning and general cognitive processes. Also, they have poor concentration and judgement and can have strong impulses. Nevertheless they can in their mental ability reach a potential good level and don't necessarily have to be much disadvantaged to healthy people.
Other impacts of Down's syndrome:
People with this disease today have a life expectancy of around 60 years, which is a great improvement to 1983, where it was much lower with 25 years.
One complication of Down's syndorme is also that they are more infertile with around 30-50 % of women who can reproduce and nearly no men, whereby it is unsure if men lack in sperm development or are just uninterested in sexual activity. But half of the children who have are produced by people with Down'ssydrome inherite the disease, when not using assisting technologies.
Ethical issues:
Mother with Downs Syndrome, Father with slight mental handicap, completely normal baby, one incredibly happy family. |
https://en.wikipedia.org/wiki/Down_syndrome#Fertility
http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/
http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/
https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/causes.aspx
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