Down syndrome

Overview

What is Down syndrome?

Down syndrome is a genetic condition in which a person has an extra copy of all or part of chromosome 21. The extra genetic material from this extra copy affects how a person develops and leads to mild to moderate intellectual disability, developmental delay, and several associated medical problems.

People with Down syndrome have common physical features including: short stature, low muscle tone, flattened face (especially the bridge of the nose), almond shaped eyes that slant upwards, small ears, a protruding tongue, a single line across the palm of the hand, and in some individuals, tiny white spots on the colored part of the eye.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/190685-down-syndrometrisomy-21-included-6260/overview/17515 • DATE UPDATED: 2016-08-03

References

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