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 ...

Treatment and Management. A Canadian study, the first randomized controlled trial evaluating the impact of growth hormone treatment on adult height in patients with Turner's syndrome, has ...

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 ...

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 ...

What is sundowning? Sometimes you might see changes in the person’s behaviour in the later afternoon or towards the end of the day. During this time the person may become intensely distressed, ...

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 ...