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| Status |
Public on Aug 13, 2021 |
| Title |
Application of Array CGH technique for the clinical diagnosis of developmental delay and congenital malformations in Saudi Arabia [244k] |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
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| Summary |
Chromosomal imbalances are implicated in the etiology of developmental delay (DD) and congenital malformation (CM). We therefore conducted high resolution array comparative genomic hybridization (array CGH) of sixty three Saudi patients [11 by Agilent-001850/CGH1x244A and 52 by Agilent-014693/CGH2x400k] for investigating and understanding the genetic heterogeneity underlying DD/CM. A total of 76 disease associated copy number variants (CNVs) were detected in twenty four patients including 1p36, 1q21, 3p23, 6p24, 7q11, 8q24, 9q33, 10p14, 11p15, 11q12, 11q24, 13q21, 15q13, 16p13, 18q23, trisomy 18, 20q11, 21q22, 22q11.21, 47,XXY and 45,X0. The diagnosis rate of array CGH was 2.4 times higher than karyotyping.
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| Overall design |
A total of 63 patients with developmental delay (DD) and congenital malformation (CM) were recruited for the study. Agilent Euro of Homo sapiens were used reference DNA [Male and Female: Part No 5190-3796 and 5190-3797]. To investigate genome defects, we applied high-density array CGH using SurePrint G3 Human CGH Microarray Kit, 1x244 K and 2x400 K, consisting of 244,000 and 400,000 copy number probes respectively (Agilent Technologies, Santa Clara, California, USA) using UCSC hg18 reference genome. 11 samples.
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| Contributor(s) |
Sajjad K, Ibtessam H, Nofe A, Heba A, Manal A, Adeel C, Mohammed A |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Aug 12, 2021 |
| Last update date |
Aug 15, 2021 |
| Contact name |
Sajjad Karim |
| E-mail(s) |
skarim1@kau.edu.sa
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| Phone |
00966557581741
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| Organization name |
King Abdulaziz University
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| Department |
Center of Excellence in Genomic Medicine Research
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| Lab |
Bioinformatics
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| Street address |
Sulemania, CEGMR-80216
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| City |
Jeddah |
| State/province |
Makka |
| ZIP/Postal code |
21589 |
| Country |
Saudi Arabia |
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| Platforms (1) |
| GPL4091 |
Agilent-014693 Human Genome CGH Microarray 244A (Feature number version) |
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| Samples (11)
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| This SubSeries is part of SuperSeries: |
| GSE182101 |
Application of Array CGH technique for the clinical diagnosis of developmental delay and congenital malformations in Saudi Arabia |
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| Relations |
| BioProject |
PRJNA754156 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE181995_RAW.tar |
278.7 Mb |
(http)(custom) |
TAR (of TXT) |
| Processed data included within Sample table |
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