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Figure 2 | BMC Medical Genetics

Figure 2

From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Figure 2

CREBBP deletion in patient 30 detected through: a genotyping of intragenic polymorphic markers (MS4, MS2, D16S3065 and SNP c.5454G>A) in the available family members allowing haplotype reconstruction; b Double color FISH analysis showing a signal of highly reduced intensity on one chromosome 16p for BAC 1072J2, specific for CREBBP (in red). The residual hybridization is accounted for by the size of the genomic clone higher than the deleted region. The control subtelomeric 16q BAC 566K11 shows a comparable signal on both chromosomes (in green).

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