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.
