ABSTRACT

Prader-Willi syndrome is (PWS) is a genetic disorder characterized during infancy by lethargy, feeding difficulties, hypotonia, and poor weight gain, in older age of untreated patients we can find obesity, developmental delay, short stature and other symptoms. This disease is caused by a microdeletion chromosome 15 region 15q11-13. We present case report of 12-years old girl with Prader-Willi syndrome that was confirmed with fluorescent in situ hybridization (FISH) analysis which shows the importance of this method for microdeletion syndromes.