Figure 3
A-C , Electropherogram of normal and tumor DNA-derived sequences showing the presence of heterozygous exon 2 c.118C>T (Arg40X) in (A) patient’s constitutional DNA and the same homozygous mutation ( B ) in tumor samples. C , Parental sample, displaying normal DNA sequence. D-E, Fragment analysis (D) and histogram (E) of MLPA results for SMARCB1/INI1 gene dosage analysis in primary tumor tissue and in control samples. Red dots indicate peaks corresponding to SMARCB1/INI1 fragments.