It has been known for several years that abnormal chromosome numbers lead to protein imbalances in the affected cells.

Scientists have uncovered how puberty reshapes brain connectivity in 22q11.2 deletion syndrome, a genetic condition linked to ...

An analysis of congenital cardiovascular disease in Turner's syndrome has led to the recent recommendation that MRI should be performed to evaluate the cardiovascular system in patients with ...

Too many people are missing out on a potentially life-changing opportunity to prevent cancer,” said Sir John Burn.

Eggs and embryos from people with polycystic ovary syndrome have altered patterns of so-called epigenetic tags, which could explain how the condition is inherited ...

Short stature and delayed puberty are evaluated in a 15-year-old girl who is diagnosed late with Turner's syndrome. What are the guidelines regarding hormone-replacement and growth-promoting therapies ...

Superman syndrome, also known as 47, XYY, is a condition classified as a chromosomal aneuploidy (which is an abnormality in chromosome structure and/or number) in which males have an additional Y ...

Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic ... SHOX value: the pseudoautosomal gene underlying short stature in Turner syndrome.

Here we highlight a pioneering collaborative project in Kenya, with a focus on expanding cancer genetics services and research into retinoblastoma, a prototypical heritable cancer syndrome. Helen ...

Genes and Genetics News. ... June 9, 2025 — A rare genetic disorder called Werner syndrome causes premature aging and devastating health complications from an early age, ...

Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new ...

Prader-Willi syndrome (PWS) is characterised by infantile hypotonia, feeding difficulties, hypogonadism, small hands and feet, mental deficiency, obesity in early childhood, a particular facial ...