Figure 4

Patient 4 - pedigree, DNA and tumor analysis. a) Arrow indicates the proband, filled boxes indicate paraganglioma, plus or minus the SDHD mutation status, and question marks indicate suspicious but unconfirmed phenotypes. b) Chromosome 11 haplotypes of immediate family. Microsatellite markers are shown with genomic location. Alleles in yellow blocks represent the probable disease haplotype. c) Histochemistry and immunohistochemistry: c1) HE staining of JT PGL, 25×. c2) SDHB immunohistochemistry, 25×. d) Sanger sequencing of SDHD in normal (e1) and tumor (e2) DNA. e) Typical profiles of microsatellite marker alleles showing no loss of heterozygosity.