Pathology- Prader-Willi Syndrome and Angelman Syndrome
The same deletion on chr 15q is the cause of both disorders. demonstrates the phenomenon known as imprinting, in which the same mutation, depending on whether the altered chromosome was of paternal or maternal origin, leads in distinct phenotypes. Prader-Willi syndrome: hypogonadism, hypotonia, developmental delay, and an absence of a gene on a paternally derived chromosome. Obesity frequently results in diabetes. "Happy puppet" with ataxic movement and inappropriate laughter, seizures, developmental delay, and a deletion on a chromosome derived from the mother characterize Angelman syndrome. symptom management under constant observation.
0 Comments
Leave a Reply. |
Kembara XtraFacts about medicine and its subtopic such as anatomy, physiology, biochemistry, pharmacology, medicine, pediatrics, psychiatry, obstetrics and gynecology and surgery. Categories
All
|