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| Status |
Public on Oct 17, 2014 |
| Title |
Application of SNP-array for the detection of genomic rearrangements responsible for sindromic mental retardation of unknown cause |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
Developmental delay/intellectual disability (DD/ID)affects 2% of our population. However, mostpatients are often leftwithout aspecific diagnosis,with thecorresponding consequences for the patientsand their families. The application of microarray technology in the study of patients with DD/ID allows whole-genome analysis with a high resolutionand performance. Here we present the results of a case included in a series of 246 patients with DD/ID, as part of the screening of the genetic causes responsible for their phenotype.
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| Overall design |
SNP-array was performed on Genome-Wide Human SNP_6 (Affymetrix) as recommended by the manufacter. Analysis was performed with Affymetrix reference profile 'GenomeWideSNP_6.hapmap270.na31.r1.a5.ref'.
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| Contributor(s) |
Orellana C, MartÃnez F, Rosello M, Oltra S, Monfort S, Mayo S |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Oct 16, 2014 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Francisco Martinez |
| E-mail(s) |
martinez_fracas@gva.es
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| Organization name |
Hospital Universitari i Politecnic La Fe
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| Department |
Unidad de Genetica
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| Street address |
Avenida Campanar 21
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| City |
Valencia |
| State/province |
Valencia |
| ZIP/Postal code |
46009 |
| Country |
Spain |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (1) |
| GSM1527005 |
Human Male with Syndromic Intellectual disability_SNP-array |
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| This SubSeries is part of SuperSeries: |
| GSE62440 |
Application of CGH-array and SNP-array for the detection of genomic rearrangements responsible for sindromic mental retardation of unknown cause |
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| Relations |
| BioProject |
PRJNA264097 |
