While Emma has Down syndrome — specifically a rare type called Mosaic Down syndrome — some people don’t believe it. “At the ...

Could two pieces of a stone mosaic ever be identical? Of course, the answer is no--and each stone’s variation subtly contributes value to the finished work. Why should your cells be any different?

Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital (present at birth) genetic condition that ...

(B) Hypothetical pedigree and molecular analysis showing germ-line mosaicism in tuberous sclerosis. Although this disorder is inherited as an autosomal-dominant trait, the pedigree is more ...

She further explains that individuals with Down syndrome occasionally present two rare variations of the condition: Mosaic Down syndrome appears when only some body cells contain an extra chromosome, ...

An Enniskillen mother fears that her son – who suffers from a rare genetic condition – will be one of thousands to lose out amid ...

If you look closely at the fundamental discoveries that have changed human health, physician–scientists have been at the ...