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Document type:
journal article 
Author(s):
Langer, S; Geigl, JB; Wagenstaller, J; Lederer, G; Hempel, M; Daumer-Haas, C; Leifheit, HJ; Speicher, MR 
Title:
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. 
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 olig...    »
 
Journal title abbreviation:
Am J Med Genet A 
Year:
2006 
Journal volume:
140 
Journal issue:
Pages contribution:
764-8 
Language:
eng 
Print-ISSN:
1552-4825 
TUM Institution:
Institut für Humangenetik