I was born with a rare genetic disorder, one of about 30 patients worldwide. The hallmark symptoms include a shorter stature, ...

After decades of mystery, researchers at Gladstone Institutes identify a gene that can derail heart formation—and show that fixing it prevents the problem in mice. SAN FRANCISCO—October 22, ...

People who have one of several well-documented medical conditions do not have only XX or XY chromosomes, which typically correspond with female and male sexes, respectively. Those conditions include ...

A hallmark of cancerous cells is an abnormal number of chromosomes or chromosome arms, known as aneuploidy. While aneuploidy is detrimental to regular cells, it occurs in as many as 90% of tumors. How ...

Ring chromosome disorders encompass rare structural chromosomal aberrations in which terminal segments are lost and the remaining arms fuse to form a circular chromosome. Such rearrangements often ...

Nearly half of all babies born with Down syndrome face congenital heart defects, often involving serious malformations that require surgery in the first months of life. For decades, scientists have ...