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

Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital (present at birth) genetic condition that occurs when a person has three copies of chromosome 21 instead of two ...

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?

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

(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 ...

While Down syndrome is characterized by trisomy — having an extra chromosome — some people with it also have mosaicism, in which some cells have three of chromosome 21 but others only have the ...

Mosaic variegated aneuploidy syndrome (MVAS) is an autosomal recessive disorder characterized by mosaic aneuploidy. Its clinical manifestations include growth and developmental delay, congenital ...

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, ...