Team links gene duplications, deletions within chromosome region to nonsyndromic bicuspid aortic valve disease
DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can ...
What is Mosaic Down syndrome? Parents share what life is like
While Emma has Down syndrome — specifically a rare type called Mosaic Down syndrome — some people don’t believe it. “At the ...
Study shows that Rett syndrome in females is not just less severe, but different
Rett syndrome is caused by mutations ... as males have only one X chromosome. In humans with Rett, this type of MECP2 gene ...
Nature4y
Genetic mechanisms leading to Angelman syndrome
open chromosomes have a maternal pattern. Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation ...
Flowerpot snake's DNA repair ability provides insights into human genetic conditions like Down syndrome
The flowerpot snake, one of the world's smallest snakes, has some unusual distinctions. Also known as the Brahminy blind ...