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Series GSE132453 Query DataSets for GSE132453
Status Public on Jun 11, 2019
Title Comorbidities - microcephaly, facial dysmorphia and epilepsy - increase the risk of the pathogenic CNV finding in patients with intellectual disability and autism
Organism Homo sapiens
Experiment type Genome variation profiling by genome tiling array
Genome variation profiling by SNP array
Summary CNV are known to be a frequent cause of the autism spectrum disorders (ASD) and intellectual disabilities (ID). However, the clinical heterogeneity of both disorders causes the diagnostic efficacy of CNV analysis to be modest. We conclude that comorbidities such as microcephaly, facial dysmorphia and epilepsy increase the risk of the pathogenic CNV finding in patients with ID and ASD. However, the significance of these comorbidities differs between both groups and shows dependency on whether the patients were primarily classified as ID or ASD. We suggest that stratification of the patients according to their comorbidities before testing can increase the yield of the detection rate of pathogenic CNV in both groups. The likelihood of pathogenic CNV detection in ASD patients without any comorbidities is low. Therefore, the effectivity of CNV analysis in these cases is modest
Overall design 204 patients were analyzed by aCGH and MLPA proceadures. Cytoscan HD and GenomeWideSNP_6 (Affymetrix, Santa Clara, CA, USA) were used for CNV analysis of 112 patients with ID (N=29) and ASD (N=83) according to the manufacturers’ protocols.
Contributor(s) Capkova Z, Capkova P, Srovnal J, Staffova K
Citation(s) 31741789
Submission date Jun 10, 2019
Last update date Nov 25, 2019
Contact name Zuzana Čapková
Organization name University Hospital Olomouc
Department Department of Medical Genetics
Street address I.P. Pavlova 6
City Olomouc
State/province Czech Republic
ZIP/Postal code 77900
Country Czech Republic
Platforms (2)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
GPL16131 [CytoScanHD_Array] Affymetrix CytoScan HD Array
Samples (112)
GSM3865132 D1567/13: ID patient
GSM3865134 D1583/13: ID patient
GSM3865135 D1278/14: ID patient
BioProject PRJNA548131

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
GSE132453_RAW.tar 12.9 Gb (http)(custom) TAR (of CEL, CNCHP, CYCHP)
Processed data provided as supplementary file

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