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Document Type |
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Article In Journal |
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Document Title |
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Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia. Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia. |
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Document Language |
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English |
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Abstract |
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Background: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic
features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental
aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the long arm of chromosome
7q11.23. We aimed to apply array-CGH technique for the detection of copy number variants in suspected WBS
patients and to determine the size of the deleted segment at chromosome 7q11.23 in correlation with the
phenotype. The study included 24 patients referred to the CEGMR with the provisional diagnosis of WBS and
8 parents. The patients were subjected to conventional Cytogenetic (G-banding) analysis, Molecular Cytogenetic
(Fluorescent In-Situ Hybridization), array-based Comparative Genomic Hybridization (array-CGH) and quantitative
Real time PCR (qPCR) Techniques.
Results: No deletions were detected by Karyotyping, however, one patient showed unbalanced translocation
between chromosome 18 and 19, the karyotype was 45,XX, der(19) t(18;19)(q11.1;p13.3)-18. FISH technique could
detect microdeletion in chromosome 7q11.23 in 10/24 patients. Array-CGH and qPCR confirmed the deletion in all
samples, and could detect duplication of 7q11.23 in three patients and two parents. Furthermore, the size of the
deletion could be detected accurately by both array-CGH and qPCR techniques. Three patients not showing the
7q11.23 deletion were diagnosed by array-CGH to have deletion in chr9p13.1-p11.2, chr18p11.32-p11.21 and
chr1p36.13.
Conclusion: Both FISH and array-CGH are reliable methods for the diagnosis of WBS; however, array-CGH has the
advantage of detection of genome deletions/ duplications that cannot otherwise be detected by conventional
cytogenetic techniques. Array-CGH and qPCR are useful for detection of deletion sizes and prediction of the
interrupted genes and their impact on the disease phenotype. Further investigations are needed for studying the
impact of deletion sizes and function of the deleted genes on chromosome 7q11.23. |
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ISSN |
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1755-8166 |
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Journal Name |
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Molecular Cytogenetics |
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Volume |
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9 |
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Issue Number |
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65 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Wednesday, October 5, 2016 |
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Researchers
| Ibtesam Hussein | Hussein, Ibtesam | Investigator | Doctorate | irhussein@gmail.com |
| Ashgan F | F, Ashgan | Researcher | | |
| M Alquaiti | Alquaiti, M | Researcher | | |
| A Magbooli | Magbooli, A | Researcher | | |
| A Chaudhary | Chaudhary, A | Researcher | Doctorate | |
| M Gari | Gari, M | Researcher | Doctorate | |
| A Abuzenadah | Abuzenadah, A | Researcher | Doctorate | |
| R Bader | Bader, R | Researcher | | |
| M AlQahtani | AlQahtani, M | Researcher | Doctorate | |
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