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Primary Down syndrome is caused by the presence of three copies of chromosome 21.

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Primary Down syndrome is caused by the presence of three copies of chromosome 21.
(a) A child who has Down syndrome. (b) Idiogram of a person who has primary Down syndrome.

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A century after Down syndrome was first described, scientists discovered that the root cause of this disorder is a condition called trisomy 21. What strides in research have been made since then?
Every year, about 7.9 million infants (6% of worldwide births) are born with serious birth defects. With the causes of over 50% of birth defects unknown, how do we diagnose and prevent them?
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