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. 2013 Apr 19;8(4):e61521. doi: 10.1371/journal.pone.0061521

Figure 3. Segregation of the missense mutation, rs121909352 (A249E), in two CMI pedigrees.

Figure 3

Family 9453 (A) and Family 9476 (B). Symbols shaded in black indicate a diagnosis of CMI with or without syringomyelia, small diamonds represent a miscarriage, and symbols shaded in grey indicate an uncertain diagnosis. 9453-0001 has been diagnosed with a suspected Chiari Malformation Type 0 and 9476–1001 has been diagnosed with tonsillar ectopia. “+/+” indicates homozygous for the reference allele; “+/−“ indicates heterozygous for the variant allele. Sequences were generated in both the forward and reverse direction and are shown below each sampled individual. Progeny 8 (Delray Beach, FL) was used to construct the pedigrees and Sequencher 5.0 (Ann Arbor, MI) was used to create the chromatograms.