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 ...

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 ...

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.

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 ...

A 15-year-old girl was referred to our clinic for evaluation of short stature and delayed puberty. Her height was 139.3 cm (13.2 cm below the 3 rd percentile on a standard growth chart), her BMI ...

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 ...

Mismatch repair germline alterations in patients with Lynch syndrome may contribute to the development of uveal melanoma, a study suggests.

Plant genetics deals with heredity in plants, specifically mechanisms of hereditary transmission and variation of inherited characteristics. Plant genetics differs from animal genetics in a number ...

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 ...