The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome.
- Author:
Young Ho YANG
1
;
Duk Hee KIM
;
So Chung CHUNG
;
Yong Seok SOHN
;
Mee Sun KIM
Author Information
1. Department of Obstetrics and Gynecology, Yonsei University, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
FISH;
G-banding microscope;
Prader-Willi syndrome
- MeSH:
Child;
Chromosomes, Human, Pair 15;
Cytogenetic Analysis;
Diagnosis*;
Fluorescence*;
Humans;
Lymphocytes;
Mass Screening;
Prader-Willi Syndrome*;
snRNP Core Proteins
- From:Journal of the Korean Pediatric Society
2000;43(3):360-364
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. MEHTODS: Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome clinically and lymphocytes from peripheral blood sampling were cultured. G-banding microscope was used to detect the microdeletion in chromosome 15 and FISH with SNRPN probe was used to detect signal defect in band q11-q13 in chromosome 15. RESULTS: There was a fluorescent signal defect in band 15 q11-q13 in one of chromosome 15 in 4 children with FISH method and only one patient was diagnosed with Prader-Willi syndrome with G-banding microscope. CONCLUSION: FISH analysis is more accurate, objective, and time saving than G-banding microscope, therefore it can be considered as a more adequate screening test for the diagnosis of Prader-Willi syndrome.
