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Fig. 3 | BMC Medical Genomics

Fig. 3

From: A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome

Fig. 3

Pedigree of affected family (A). Whole exome sequencing analysis identified a large heterozygous copy number deletion on CREBBP gene, from exon 29 to exon 31 (chr16 3778026-3781885) on the patient, this mutation was de novo and not found on his parents by sanger sequencing (B). Long PCR and Sanger sequencing showed that the heterozygous copy number deletion region chr16:3745393-3783894 covers the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (C, D)

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