The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
Journal of the Korean Pediatric Society
;
: 360-364, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-44564
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Prader-Willi
/
Cromossomos Humanos Par 15
/
Linfócitos
/
Programas de Rastreamento
/
Análise Citogenética
/
Diagnóstico
/
Proteínas Centrais de snRNP
/
Fluorescência
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Criança
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2000
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS