Down syndrome – Chromosomal birth defect

Down syndrome – Chromosomal birth defect

Down syndrome – Chromosomal birth defect.
 
It is the most common chromosomal syndrome of birth defects. It occurs immediately after fertilization, when one extra chromosome appears in the first cell. Each healthy cell of the human body contains 46 chromosomes in 23 pairs. In the case of Down syndrome, there is an anomaly where each cell contains three 21st chromosomes instead of two. That’s why another name for this disease is trisomy (triplication) of chromosome 21. Only 4% of patients experience this so-called a translocation (relocation) whereby the redundant part of chromosome 21 attaches to another chromosome.
The occurrence of this disease is considered a genetic lottery, and scientists have still not been able to investigate the cause of the mutation. Children with Down syndrome have characteristic facial features – slanted eyes. A stronger physique and a flat rounded face. They also often have a stronger tendency to cardiovascular disease. They are also 3-5 times more likely to suffer from Alzheimer’s.

The risk factor is the age of the parents – mothers older than 35, fathers older than 50. 92% of fetuses affected by this disease are aborted in Europe.

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