E-TABM-286 - Comparative genomic hybridization of human samples with deletions of 16p11.2p12.2 or duplication/triplication of 16p11.2p12.2 to identify the breakpoints

Status
Released on 1 September 2007, last updated on 2 May 2014
Organism
Homo sapiens
Samples (5)
Array (1)
Protocols (5)
Description
Array CGH was performed to identify the breakpoints in 3 cases with deletions of 16p11.2p12.2 and 1 case with a duplication/triplication of 16p11.2p12.2.
Experiment types
comparative genomic hybridization by array, comparative genome hybridization
Contact
Citation
Discovery of a novel microdeletion syndrome of 16p11.2p12.2. Blake C. Ballif, Sara A. Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Kelly E. Jackson, Alexander Asamoah, Pamela L. Brock, Gordon C. Gowans, Robert L. Conway, John M. Graham, Jr., Livija Medne, Elaine H. Zackai, Tamim H. Shaikh, Joel Geoghegan, Rebecca R. Selzer, Peggy S. Eis, Bassem A. Bejjani, Lisa G. Shaffer.
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-TABM-286.idf.txt
Sample and data relationshipE-TABM-286.sdrf.txt
Raw data (1)E-TABM-286.raw.1.zip
Processed data (1)E-TABM-286.processed.1.zip
Array designA-NGEN-103.adf.txt