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Result of CytoScan 315K microarray of patient. The result showed a deletion which had a size of 4.8 Mb in the 7q21.2q21.3 region.

Journal: Journal of Pediatric Genetics

Article Title: Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature

doi: 10.1055/s-0041-1736613

Figure Lengend Snippet: Result of CytoScan 315K microarray of patient. The result showed a deletion which had a size of 4.8 Mb in the 7q21.2q21.3 region.

Article Snippet: Then, screening for copy number changes was performed on genomic DNA of the patient and her parents by using Human Genome Comparative Genomic Hybridization Microarray (Affymetrix Cytoscan Optima) 315k according to standard techniques.

Techniques: Microarray