Original Research Article
Year: 2019 | Month: July-September | Volume: 4 | Issue: 3 | Pages: 90-92
Fluorescence in Situ Hybridization (FISH) in Prader-Willi Syndrome
Anjali Shastry1, Preetha Tilak2, Amudha Subramaniam3
1Lecturer, 2Junior Consultant, 3Lecturer,
Division of Human Genetics, Department of Anatomy, St. John’s Medical college, Bangalore-34, India.
ABSTRACT
Introduction: Prader–Willi syndrome (PWS) present in 1/15,000–1/30,000 individuals that is caused by the loss of paternally expressed genes on chromosome 15q11.2‐13. Fluorescence in situ hybridization (FISH) is first line of investigation whenever there is strong suspicion of PWS. Diagnosis of Prader Willi Syndrome is very important in multidisciplinary management of patients.
Aims and objectives: To study application of FISH in diagnosis of Prader Willi Syndrome.
Materials and Methods: Peripheral blood samples of 15 patients referred to Division of Human Genetics, Department of Anatomy with suspected Prader Willi Syndrome was subjected to FISH.
Results: Out of 15 samples, three patients were positive for Prader Willi Syndrome. Hence in 20% cases FISH showed a positive result.
Conclusion: FISH is a first line investigation for detection of PWS since it is a rapid and reliable procedure. However negative results should be subjected to molecular genetic testing to confirm diagnosis.
Key words: FISH, microdeletion, Prader Willi Syndrome, SNRPN, obesity