Down syndrome

Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. These extra genes and DNA cause changes in development of the embryo and foetus resulting in physical and mental abnormalities. Each patient is unique and there can be great variability in the severity of symptoms.

Normally, the human body has 23 pairs of chromosomes called autosomes and two sex chromosomes allosomes. At conception, a new cell is formed that receives one copy of each chromosome from the sperm and one copy from the egg. The new cell divides and multiplies to form an embryo and ultimately a foetus and new human. Each cell contains the exact same genetic material as the original 48 chromosomes, carrying the same genes and DNA.

In patients with Down syndrome, an error occurs in the coming together of chromosome 21. The extra genetic material is responsible for the developmental abnormalities that occur. Instead of 46 chromosomes plus two sex chromosomes, there are 47.

 

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