|
| Status |
Public on Jun 11, 2019 |
| Title |
D332/17: ID patient |
| Sample type |
genomic |
| |
|
| Source name |
Peripheral blood
|
| Organism |
Homo sapiens |
| Characteristics |
diagnosis: intellectual disabilities (ID)
gender: M
facial dysmorphia: no
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was extracted from mononuclear cell of peripheral blood using saline method. DNA quality and quantity was assessed using a Nanodrop Spectrophotometer.
|
| Label |
Biotin
|
| Label protocol |
As per manufacturer (Affymetrix)
|
| |
|
| Hybridization protocol |
DNA was restriction digested, PCR amplified, fragmented, labeled and hybridized to each array according to the manufacturer's instructions.
|
| Scan protocol |
The Arrays were then washed using Affymetrix fluidics stations, and scanned using the Gene Chip Scanner 3000 7G.
|
| Data processing |
The array image was acquired using Affymetrix GeneChip® Command Console (version 4.0.0.1567G). Copy number values were extracted and converted from CEL files into CYCHP files using Chromosome Analysis Suite software (v.3.3.0.139) in default manner using CYTO2 algorythm v.s. 2.2.0. Reference file was CytoScan HD Array.na33.r2, ChAS Browser was NefAffx Build hg19 (20170803).
|
| |
|
| Submission date |
Jun 10, 2019 |
| Last update date |
Jun 11, 2019 |
| Contact name |
Zuzana Čapková |
| E-mail(s) |
capkzu00@gmail.com
|
| 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 |
| |
|
| Platform ID |
GPL16131 |
| Series (1) |
| GSE132453 |
Comorbidities - microcephaly, facial dysmorphia and epilepsy - increase the risk of the pathogenic CNV finding in patients with intellectual disability and autism |
|
