Definition:
Pallister Killian mosaic syndrome is a very rare disease that affects humans. It consists of the development of the isochromosome 12p, which has two abnormally small legs.
Diagnosis:
The presence of the isochromosome can be detected in skin fibrolast samples an amniotic fluid samples. The symptoms can also indicate the presence of the disease.
Treatment:
There is not treatment yet available for the disease.
Symptoms and Signs:
The symptoms of the illness include mental retardation, hypotonia, epilepsy, hyperpigmentation as well as hypopigmentation. Patients also show unusual facial features and deafness. Some patients meanwhile have system problems linked with the disease, such as congenital heart defects.
Causes:
The cause of the disease is not yet known, but there are studies that indicated that it may have developed from premetiotic mitotic errors.
:
pallisterkillianmosaicsyndrome
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
