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| Status |
Public on May 11, 2008 |
| Title |
Microarray CGH (aCGH) analysis of a patient with Mental Retardation (MR) |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
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| Summary |
Background: Mental Retardation occurs with the prevalence of 2%-3% of general population. Molecular karyotyping by 1-Mb resolution microarray revealed that pathological genomic imbalances were found in 14%-20% of MR.
Aim: The aim of this study is to find the submicroscopic rearrangements in patient with MR using the custom BAC microarray (probe spacing at 0.75 Mb throughout the human genome).
Conclusion: We identified approximate 2.0-Mb deletion on 9q33.3-q34.11 in a female with MR (Patient 1).
Keywords: array CGH
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| Overall design |
Sample analyzed: a female with MR (Patient 1)
aCGH experiment: We developed and used custom 4.2K BAC microarray (probe spacing at 0.75 Mb throughout the human genome). To minimize the false positive result, we performed aCGH experiment in duplicate with dye-swaps.
Validation of aCGH: Results were validated by Fluorescence in situ hybridization (FISH).
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| Contributor(s) |
Saitsu H, Mizuguchi T, Matsumoto N |
| Citation(s) |
18469812 |
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| Submission date |
Jan 07, 2008 |
| Last update date |
Mar 19, 2012 |
| Contact name |
Takeshi Mizuguchi |
| E-mail(s) |
tmizu@yokohama-cu.ac.jp
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| Phone |
+81-45-787-2606
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| Fax |
+81-45-786-5219
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| URL |
http://www-user.yokohama-cu.ac.jp/~hygiene/
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| Organization name |
Yokohama City University
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| Department |
Department of Human Genetics
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| Street address |
Fukuura 3-9, Kanazawa-ku
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| City |
Yokahama |
| ZIP/Postal code |
236-0004 |
| Country |
Japan |
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| Platforms (1) |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA108639 |
