Please note that we have stopped the regular imports of Gene Expression Omnibus (GEO) data into ArrayExpress. This may not be the latest version of this experiment.

E-GEOD-57899 - Application of array-CGH for the detection of genomic rearrangements responsible for syndromic mental retardation of unknown cause

Status
Released on 22 May 2014, last updated on 3 June 2014
Organism
Homo sapiens
Samples (2)
Array (1)
Protocols (5)
Description
Here we describe an interstitial pure duplication of 19p13.3 that was initially considered as a de novo alteration, in a patient with intellectual disability studied by array-CGH. The finding of the same chromosomal alteration in a first-degree cousin of this patient led us to investigate the presence of insertional translocations. An intrachromosomal insertional translocation was found in at least three generations. Three intellectually disabled patients with the same duplication and multiples abortions among translocation carrier family members were found. A review of other published cases has allowed us to find three other cases with a similar pure duplication and some clinical findings present in all patients as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability and dysmorphic features. These findings allow us to suggest the existence of a new microduplication syndrome in chromosomal region 19p13.3. Whole genome array-CGH was performed on Agilent oligo-chip 44K (human genome CGH microarray G4410B from Agilent Technologies, Palo Alto, CA) as recommended. The patients’ DNA samples were tested against a pool of 10 sex-matched normal DNA samples, all of them (patients and normal controls) from our geographical area. Scanned images were quantified using Agilent Feature Extraction Software (v9.0). The results were analyzed using Agilent Genomic Workbench software. Annotations have been obtained from UCSC (http://genome.ucsc.edu) based on human genome build GRCh37/hg19.
Experiment type
comparative genomic hybridization by array 
Contacts
Francisco Martinez <martinez_fracas@gva.es>, Carmen Orellana, Francisco Martínez, Mónica Rosello, Sandra Monfort, Silvestre Oltra, Sonia Mayo
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-GEOD-57899.idf.txt
Sample and data relationshipE-GEOD-57899.sdrf.txt
Raw data (1)E-GEOD-57899.raw.1.zip
Processed data (1)E-GEOD-57899.processed.1.zip
Array designA-GEOD-8841.adf.txt
Links