Researchers working on an incurable blood cancer can now use a new lab model that could make testing potential new treatments ...

Image Credit: Rost9 / Shutterstock.com The normal male sex chromosomes are XY; in the case of Superman syndrome, males possess one additional Y chromosome in addition to the paternally inherited Y ...

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental ...

They also found that after the extra chromosome was removed, genes tied to nervous system development were more active and those related to metabolism were less active. This backs up previous ...

X chromosome inactivation (XCI) is a mammalian dosage compensation mechanism that ensures balanced expression of X-linked genes between males and females. Research using rodent models has led to major ...

A heterozygous pericentric inversion of chromosome 12 (inv (12)) was prenatally diagnosed. The breakpoints were localized to p12.3 and q14, resulting in more than one-third of the total length of ...

In the study, published Thursday in the American Journal of Human Genetics, researchers analyzed the genomes of more than 200,000 participants in the All of Us cohort, which was established by the ...

A new study finds the genetic backgrounds of people in the U.S. are "highly complex" and may differ from their self-defined racial or ethnic groups.

To Shakespeare’s Hamlet we humans are “the paragon of animals”. But recent advances in genetics are suggesting that humans are far from being evolution’s greatest achievement. For example ...

Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones. Hyperostosis ...