All issues > Volume 41(10); 1998

Case Report

J Korean Pediatr Soc. 1998;41(10):1433-1437. Published online October 15, 1998.

A Case of Williams Syndrome Diagnosed by FISH

Hyun H Kim¹, Won Bae WB Lee², Won Bae WB Lee¹

¹Department of Pediatrics, Catholic University, Medical College, Seoul, Korea
²Medical Research Institute of St. Holy Hospital, Catholic University College of Medicine, Seoul, Korea

Correspondence Won Bae WB Lee ,Email: 1

Abstract

Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect(particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial probe of elastin gene for FISH was supplied and diagnosed this disease easier. Using PCR has some benefits concerning whether the origin of the genetic defect is maternal or paternal. The diagnosis of this disease is difficult due to low sensitivity, below 50%. But FISH is widely used because it is faster with high positive predictibility. We report Williams syndrome diagnosed by FISH with a brief review and related literatures.

Keywords :Williams syndrome, Flurescent in situ hybridization(FISH)