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Figure 1 | BMC Medical Genetics

Figure 1

From: Paraganglioma and pheochromocytoma upon maternal transmission of SDHDmutations

Figure 1

Patient 1 - pedigree and immunohistochemistry. a) An arrow indicates the proband. Filled boxes indicate paraganglioma and plus or minus the SDHD mutation status. NT = not tested. b) Chromosome 11 haplotypes of family members. Microsatellite markers are shown with genomic location (marker D11S4177 is close to the telomere of the p arm. Marker D11S4098 is close to the telomere of the q arm), and the position of SDHD is indicated. Alleles in bright yellow blocks represent the probable disease haplotype, present in the proband, mother and maternal grandmother. Other colors represent probable additional haplotypes in the family and possible recombinations; nd = not determined. ci) SDHB immunohistochemistry of the pheochromocytoma, 25×. Inset, adrenal cortex positive for SDHB, 25×. cii) Detail of adrenal medulla, 200×, with inset of positive cortex, 200×.

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