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Series GSE20564 Query DataSets for GSE20564
Status Public on Mar 05, 2011
Title Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary Recurrent deletions on 15q13.3 have been identified as a predisposition to mental retardation, epilepsy and psychiatric disease. We report compound heterozygous deletions on 15q13.3 in one patients with severe encephalopathy and seizures.
 
Overall design We analysed two independent patients with severe encephalopathy and seizures and found heterozygous deletions on 15q13.3 in both patients.
 
Contributor(s) Hackmann K, Bonin M, Schröck E, Moog U
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Submission date Mar 01, 2010
Last update date Nov 27, 2018
Contact name Michael Bonin
Organization name University Tuebingen
Department Medical Genetics
Lab Microarray Facility
Street address CAlwerstr. 7
City Tuebingen
State/province BW
ZIP/Postal code 72076
Country Germany
 
Platforms (2)
GPL4091 Agilent-014693 Human Genome CGH Microarray 244A (Feature number version)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (2)
GSM506855 Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13 (patient 1)
GSM516677 Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13 (patient 2)
Relations
BioProject PRJNA125215

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE20564_RAW.tar 79.4 Mb (http)(custom) TAR (of CEL, CNCHP, TXT)
Processed data included within Sample table
Processed data provided as supplementary file

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