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. Author manuscript; available in PMC: 2012 Sep 1.
Published in final edited form as: Am J Med Genet A. 2011 Aug 10;155(9):2263–2268. doi: 10.1002/ajmg.a.34150

Figure 1.

Figure 1

Pedigree and haplotype analysis. Individuals with a Costello syndrome phenotype are identified through filled symbols. Shading of the symbol depicting the abortus (II-2) indicates possible Costello syndrome. The haplotypes at the six polymorphic sites of the HRAS locus were ascertained in II-2 (Patient 1) and the mother by allelic specific amplification. Presence of the HRAS mutation resulting in Costello syndrome is shown as HRAS c.34 Mut. The haplotype of the father is inferred from sequencing and alleles passed on to Patient 1. The genotypes shown in parenthesis for II-6 (Patient 2) were inputted using linkage disequilibrium data and her inferred haplotype is presented in italic.