Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Langer, S; Geigl, JB; Wagenstaller, J; Lederer, G; Hempel, M; Daumer-Haas, C; Leifheit, HJ; Speicher, MR.
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.
Am J Med Genet A. 2006; 140(7):764-768
Doi: 10.1002/ajmg.a.31141
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- Führende Autor*innen der Med Uni Graz
- Speicher Michael
- Co-Autor*innen der Med Uni Graz
- Geigl Jochen Bernd
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- Abstract:
- In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologies to characterize a de novo translocation t(2;15) in a girl with dysmorphic features, severe developmental delay and frequent seizures. Multiplex-FISH (M-FISH) excluded the involvement of other chromosomes than chromosomes 2 and 15. We used an oligonucleotide array containing more than 10.000 SNPs, that is, the GeneChip Mapping 10K 2.0 SNP Affymetrix array, and readily fine-mapped a deletion in chromosomal region 2q24.1 --> 2q31.1. The extent of this deletion was verified with multicolor BAC-clone hybridizations. The deletion has a size of about 13 Mb and is within a gene rich region containing about 76 genes. Interestingly, several of these genes are ion channel genes or genes involved in neuron differentiation, so that the frequently occurring seizures are probably due to loss or haploinsufficiency of one or more of these genes.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology
- Child, Preschool -
- Chromosome Banding -
- Chromosome Deletion -
- Chromosomes, Human, Pair 2 - genetics
- Ear - abnormalities
- Epilepsy - pathology
- Fatal Outcome -
- Female -
- Genome, Human -
- Humans -
- Karyotyping -
- Nucleic Acid Hybridization - methods
- Find related publications in this database (Keywords)
- deletion 2q24.1 -> 2q31.1
- multiplex-FISH (M-FISH)
- oligonucleotide array
- seizures
- ion channel genes