| A Case of Williams Syndrome Diagnosed by FISH |
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Hyun Kim1, Won Bae Lee2, Won Bae Lee1 |
1Department of Pediatrics, Catholic University, Medical College, Seoul, Korea
2Medical Research Institute of St. Holy Hospital, Catholic University College of Medicine, Seoul, Korea |
| 형광 동소 보합 결합법으로 진단된 Williams 증후군 1례 |
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김현1, 이원선2, 이원배1 |
1가톨릭대학 의과대학 소아과학교실
2가톨릭대학 의과대학 소아과학교실 |
Correspondence:
Won Bae Lee, Email: 1
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| Abstract |
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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. |
| Key Words:
Williams syndrome, Flurescent in situ hybridization(FISH) |
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