Doctor insights on:
What Is The Cause Of Down Syndrome
Extra chromosome mtl: The traditional ds patient has an extra 21 chromosome(c) that resulted from an improper splitting of the c pairs as the egg is being formed.At conception dad's 21 is added to the pair already there, while all the other chromosomes just have a pair.Cell division from conception will place the triplet 21 in every cell of the body, and the imbalance of the material leads to the features of ds. ...Read more
Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more
Poor health: The expected lifespan of a ds patient born today exceeds 60 years if they have access to the basic medical care & dietary resources of average individuals. They do have higher risks for a variety of health issues involving their glands (thyroid, diabetes) their bones (scoliosis, joint pain & weakness) and the impact of obesity is much worse for their overall health. ...Read more
Chromosome influence: The size and shape of the skull and facial features of down syndrome patients is heavily influenced by the effect of the extra chromosome present in every cell of the body.The same goes for eyes, hands, feet, all of which require a lot of decoding during formation to produce the structures.Other chromosome defects produce some common features to those born with a specified extra chromosome. ...Read moreSee 1 more doctor answer
DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked? ...Read moreSee 1 more doctor answer
I was wondering what are the biochemical processes that cause Down syndrome people to be more prone to congenital heart diseases?
Unknown: The heart is a very complex organ. We still do not fully understand how the normal heart develops in the fetus. We understand even less about what causes the heart to develop abnormally. Although 40-50% of patients with down syndrome have congenital heart dis., and we know what causes down syndrome, we do not yet understand why this leads to heart defects (likely due to abnormal gene expression). ...Read more
Selection variables: If a woman generates an egg that contains 2 rather than 1 chromosome 21's, the addition of a 21 from the sperm will cause the trisomy 21 condition. Some of these miscarry & some deliver. When males generate a sperm that carries irregular information, there is speculation that the ones with bad information do not swim as well & thus can't pass the defect. ...Read more
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