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Figure 3 | BMC Medical Genetics

Figure 3

From: Paraganglioma and pheochromocytoma upon maternal transmission of SDHDmutations

Figure 3

Patient 2 - pedigree, DNA and tumor analysis. a) MRI of the skull base in patient 2, showing a probable vagal body tumor (white arrow). b) Pedigree of family 2 - arrow indicates the proband, filled boxes indicate paraganglioma, and plus or minus the SDHD mutation status. NT = not tested. c) Chromosome 11 haplotypes of family members. Alleles in bright yellow blocks represent the likely disease haplotype, present in all mutation carriers. Other colors represent probable additional haplotypes in the family and possible recombinations. The proband and siblings all carry the disease haplotype. d) Histochemistry and immunohistochemistry: d1) HE staining of adrenal tumor, 25×, with inset 200×. d2) SDHB immunohistochemistry of adrenal tumor, 25×. Inset, chromogranin A staining, 25×. e) Sanger sequencing of SDHD in normal and tumor DNA. f) Typical profiles of microsatellite marker alleles showing no loss of heterozygosity.

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