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Image Search Results
Journal: Journal of Pediatric Genetics
Article Title: Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome
doi: 10.1055/s-0037-1612638
Figure Lengend Snippet: Case #2's CGH analysis (DNAarrayTM-Oligi-180) revealed ( A ) a single copy number decrease of 3.0 Mb of chromosome 17p13.3 region and ( B ) a single copy increase of 2.0 Mb of chromosome 16p13.3 region consistent with a 17p13.3 microdeletion and a 16p13.3 microduplication. The derivative chromosome likely represents a malsegregation of a paternal balanced chromosome 16;17 translocation. The 16p duplication does not encompass the CREBBP gene within the Rubenstein–Taybi critical region. CGH, comparative genomic hybridization; CREBBP, CREB binding protein (CREB, cAMP response element binding protein binding protein).
Article Snippet:
Techniques: Translocation Assay, Hybridization, Binding Assay, Protein Binding