Application Of FISH In Diagnosing The Williams Syndrome

Objective: To make a definite diagnosis of Williams syndrome by Fluorescence in Situ Hybridization technology .To investigate the clinical characteristics of WS, in order to diagnosis it.Method: There were three suspensive Williams syndrome patients.The clinical characteristics of the patients were investigated by case history, medical examination and laboratory examination. The assessments of three suspensive Williams syndrome patients were made by the manifest score list of Williams syndrome. The caryotype analysis of three suspensive Williams syndrome patients was made by high-resolution of G- banding technology. The micr—loss in the number 7 chromosome was tested by BAC-FISH technology.Results:1. Clinical characteristics of manifest score in the three patients was 6,2and7.2. No abnormality of caryotype analysis was found in the three patients.3. There were micr—loss of elastin genes in the number 7 chromosome in the number I and number III patient by FISH technology but no abnormality was found in the number II patient.Conclusion: The Williams syndrome clinical characteristics of manifest score may be useful for the patients of supravalvular aortic stenosis with clinical characteristics. For the most suspensive Williams syndrome patients, the FISH technology can be made to make a definite diagnosis.