The boy in the center of this image is affected by which genetic disease?

The boy in the center of this image is affected by which genetic disease?

Haemophilia

Dwarfism

Down syndrome

Autism

Answer: Down syndrome

A genetic condition called Down’s syndrome is linked to intellectual disability, a distinctive facial appearance, and low muscle tone (hypotonia) in early childhood. Although all affected individuals have cognitive deficits, the intellectual disability is often mild to moderate.

Nondisjunction, a type of cell division error, is usually the cause of Down syndrome. A non-disjunction embryo has three copies rather than the usual two of chromosome 21. A pair of chromosome 21s in the sperm or egg does not divide before or during fertilization. The extra chromosome is duplicated in all cells of the body as the embryo develops. Trisomy 21 is the term used to describe this form of Down syndrome, which accounts for 95% of all cases.

The origin of the whole or partial extra chromosome remains a mystery. The only factor that has been linked to a higher risk of having a baby with Down syndrome due to nondisjunction or mosaicism is the age of the mother. However, 51% of children with Down syndrome are born to women under the age of 35 due to higher birth rates among younger women.

There is no conclusive scientific evidence to suggest that environmental variables or parental behaviors before or during pregnancy cause Down syndrome.

Down syndrome is caused by an extra copy of the 21st chromosome, which can come from the mother or the father. The father was identified in about 5% of cases.

About 1 in 700 newborns has Down syndrome. In the United States, the number of people with Down syndrome is around 200,000 and there are around 5,300 newborns born here every year. Although women of any age can give birth to a child with Down syndrome, the likelihood of this happening increases with age.

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