Search results
Results from the WOW.Com Content Network
Noonan syndrome is the second most common syndromic cause of congenital heart disease. 50-70% of individuals with NS are born with some form of congenital heart defect, with pulmonary valvular stenosis being the most common (50–60%). [9]
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Jacqueline Anne Noonan (October 28, 1928 – July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. [ 1 ] [ 2 ] She was also the original describer of hypoplastic left heart syndrome .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
The two graphics illustrate sampling distributions of polygenic scores and the predictive ability of stratified sampling on polygenic risk score with increasing age. + The left panel shows how risk—(the standardized PRS on the x-axis)—can separate 'cases' (i.e., individuals with a certain disease, (red)) from the 'controls' (individuals without the disease, (blue)).
Medical genetics A webbed neck , or pterygium colli , is a congenital skin fold that runs along the sides of the neck down to the shoulders . There are many variants.
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended. A small degree of cubitus valgus (known as the carrying angle) is acceptable and occurs in the general population.
It is relatively common in adult females; around 35% of women have a skewed ratio over 70:30, and 7% of women have an extreme skewed ratio of over 90:10. [3] This is of medical significance, due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X-inactivation.