Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study

Chiou Nan Shiue, Yen-Yin Chou, Louise Chuang, Wen Hui Tsai, Shang Chun Tsai, Jing-Ming Wu, Pao-Lin Kuo, Shio Jean Lin

Research output: Contribution to journalArticle

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Abstract

Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region encompasses about 1.5∼2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We attempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics of 25 patients referred to us to confirm a diagnosis of WBS. Those 25 patients were classified into 3 groups: group 1, younger than 3 years; group 2, between 3 and 5 years old; and group 3, older than 5 years. A diagnosis was made by fluorescence in situ hybridization (FISH) analysis. Results: Nineteen of the 25 suspected cases (76%) were found to have deletion of the elastin gene. Nine of the 14 patients in group 1 (64.29%) had the deletion as did 5 in 6 in group 2 (83.33%) and 5 in 5 (100%) in group 3. Seventy-two percent (18/25) of patients with deletion of the elastin gene had congenital cardiovascular defects and developmental delay, 68% (17/25) had dysmorphic features, 56% (14/25) had mental retardation, 40% (10/25) had a gregarious personality, 28% (7/25) had dental abnormalities in, 4% (1/25) had strabismus, 4% (1/25) had systemic hypertension. Most of the cases (19/25) with more than 2 phenotypic features were found to have deletion of the elastin gene, particularly those with cardiovascular defects. Conclusions: The clinical characteristics, including SVAS/PPS, mental retardation, developmental delay, a dysmorphic face, dental abnormalities, and a gregarious personality may be useful indicators of WBS. Although cardiovascular defects alone cannot serve as an absolute indicator, the combination of cardiovascular defects with 1 of the other phenotypic features can help make a diagnosis of WBS.

Original languageEnglish
Pages (from-to)17-23
Number of pages7
JournalTzu Chi Medical Journal
Volume16
Issue number1
Publication statusPublished - 2004 Feb 1

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Williams Syndrome
Cytogenetics
Gene Deletion
Elastin
Tooth Abnormalities
Intellectual Disability
Personality
Strabismus
Fluorescence In Situ Hybridization
Hypertension
DNA

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Shiue, Chiou Nan ; Chou, Yen-Yin ; Chuang, Louise ; Tsai, Wen Hui ; Tsai, Shang Chun ; Wu, Jing-Ming ; Kuo, Pao-Lin ; Lin, Shio Jean. / Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study. In: Tzu Chi Medical Journal. 2004 ; Vol. 16, No. 1. pp. 17-23.
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title = "Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study",
abstract = "Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region encompasses about 1.5∼2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We attempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics of 25 patients referred to us to confirm a diagnosis of WBS. Those 25 patients were classified into 3 groups: group 1, younger than 3 years; group 2, between 3 and 5 years old; and group 3, older than 5 years. A diagnosis was made by fluorescence in situ hybridization (FISH) analysis. Results: Nineteen of the 25 suspected cases (76{\%}) were found to have deletion of the elastin gene. Nine of the 14 patients in group 1 (64.29{\%}) had the deletion as did 5 in 6 in group 2 (83.33{\%}) and 5 in 5 (100{\%}) in group 3. Seventy-two percent (18/25) of patients with deletion of the elastin gene had congenital cardiovascular defects and developmental delay, 68{\%} (17/25) had dysmorphic features, 56{\%} (14/25) had mental retardation, 40{\%} (10/25) had a gregarious personality, 28{\%} (7/25) had dental abnormalities in, 4{\%} (1/25) had strabismus, 4{\%} (1/25) had systemic hypertension. Most of the cases (19/25) with more than 2 phenotypic features were found to have deletion of the elastin gene, particularly those with cardiovascular defects. Conclusions: The clinical characteristics, including SVAS/PPS, mental retardation, developmental delay, a dysmorphic face, dental abnormalities, and a gregarious personality may be useful indicators of WBS. Although cardiovascular defects alone cannot serve as an absolute indicator, the combination of cardiovascular defects with 1 of the other phenotypic features can help make a diagnosis of WBS.",
author = "Shiue, {Chiou Nan} and Yen-Yin Chou and Louise Chuang and Tsai, {Wen Hui} and Tsai, {Shang Chun} and Jing-Ming Wu and Pao-Lin Kuo and Lin, {Shio Jean}",
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Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study. / Shiue, Chiou Nan; Chou, Yen-Yin; Chuang, Louise; Tsai, Wen Hui; Tsai, Shang Chun; Wu, Jing-Ming; Kuo, Pao-Lin; Lin, Shio Jean.

In: Tzu Chi Medical Journal, Vol. 16, No. 1, 01.02.2004, p. 17-23.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study

AU - Shiue, Chiou Nan

AU - Chou, Yen-Yin

AU - Chuang, Louise

AU - Tsai, Wen Hui

AU - Tsai, Shang Chun

AU - Wu, Jing-Ming

AU - Kuo, Pao-Lin

AU - Lin, Shio Jean

PY - 2004/2/1

Y1 - 2004/2/1

N2 - Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region encompasses about 1.5∼2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We attempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics of 25 patients referred to us to confirm a diagnosis of WBS. Those 25 patients were classified into 3 groups: group 1, younger than 3 years; group 2, between 3 and 5 years old; and group 3, older than 5 years. A diagnosis was made by fluorescence in situ hybridization (FISH) analysis. Results: Nineteen of the 25 suspected cases (76%) were found to have deletion of the elastin gene. Nine of the 14 patients in group 1 (64.29%) had the deletion as did 5 in 6 in group 2 (83.33%) and 5 in 5 (100%) in group 3. Seventy-two percent (18/25) of patients with deletion of the elastin gene had congenital cardiovascular defects and developmental delay, 68% (17/25) had dysmorphic features, 56% (14/25) had mental retardation, 40% (10/25) had a gregarious personality, 28% (7/25) had dental abnormalities in, 4% (1/25) had strabismus, 4% (1/25) had systemic hypertension. Most of the cases (19/25) with more than 2 phenotypic features were found to have deletion of the elastin gene, particularly those with cardiovascular defects. Conclusions: The clinical characteristics, including SVAS/PPS, mental retardation, developmental delay, a dysmorphic face, dental abnormalities, and a gregarious personality may be useful indicators of WBS. Although cardiovascular defects alone cannot serve as an absolute indicator, the combination of cardiovascular defects with 1 of the other phenotypic features can help make a diagnosis of WBS.

AB - Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region encompasses about 1.5∼2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We attempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics of 25 patients referred to us to confirm a diagnosis of WBS. Those 25 patients were classified into 3 groups: group 1, younger than 3 years; group 2, between 3 and 5 years old; and group 3, older than 5 years. A diagnosis was made by fluorescence in situ hybridization (FISH) analysis. Results: Nineteen of the 25 suspected cases (76%) were found to have deletion of the elastin gene. Nine of the 14 patients in group 1 (64.29%) had the deletion as did 5 in 6 in group 2 (83.33%) and 5 in 5 (100%) in group 3. Seventy-two percent (18/25) of patients with deletion of the elastin gene had congenital cardiovascular defects and developmental delay, 68% (17/25) had dysmorphic features, 56% (14/25) had mental retardation, 40% (10/25) had a gregarious personality, 28% (7/25) had dental abnormalities in, 4% (1/25) had strabismus, 4% (1/25) had systemic hypertension. Most of the cases (19/25) with more than 2 phenotypic features were found to have deletion of the elastin gene, particularly those with cardiovascular defects. Conclusions: The clinical characteristics, including SVAS/PPS, mental retardation, developmental delay, a dysmorphic face, dental abnormalities, and a gregarious personality may be useful indicators of WBS. Although cardiovascular defects alone cannot serve as an absolute indicator, the combination of cardiovascular defects with 1 of the other phenotypic features can help make a diagnosis of WBS.

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