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KMID : 0368119990290040114
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Korean Circulation Journal
1999 Volume.29 No. 4 p.114 ~ p.119
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Detection of Microdeletion of Elastin Gene in Patients with Williams Syndrome and their Family by Fluorescent in Situ Hybrization and Evaluation of Clinical Manifestations
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윤용수/Yong Soo Yun
정향민/김호성/노정일/최정연/Hyang Min Cheong/Ho Sung Kim/Chung Il Noh/Jung Yun Choi
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Abstract
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Background and Objectives : Williams syndrome is characterized by supravalvular aortic
stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is
considered to be hemizygotic deletion in Chromosome 7q11.23 which includes the elastin
gene. We examined the deletion in Korean Williams syndrome patients and their parents.
Materials and Method : Sixteen patients were selected trough careful clinical
examination including echocardiography and cardiac angiography. Hemizygotic deletion of
elastin gene was determined in patients and 21 parents with fluorescent in situ
hybridization (FISH) technique using the bacterial artificial chromosome clone 244H3
probe or commercial WSCR probe.
Results : FISH showed hemizygotic deletion of elastin gene in all sixteen patients but
none of their parents showed deletion.
Conclusion : Hemizygotic deletion of elastin gene was found in all patients who were
clinically diagnosed as Williams syndrome.
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KEYWORD
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