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. Author manuscript; available in PMC: 2013 Dec 1.
Published in final edited form as: Am J Med Genet A. 2012 Nov 19;158A(12):3137–3147. doi: 10.1002/ajmg.a.35664

Figure 1. Heritability plays a role in isolated CDH.

Figure 1

Pedigrees obtained from the UPDB showing seven interrelated isolated CDH patients that were genotyped and subjected to shared segment analysis. Note that some patients are related to each other through multiple founders. By enriching our study cohort with distantly related CDH patients, we hoped to increase the probability of finding shared, disease-associated segments. The disease burden in these pedigrees (number of affecteds/number of descendants) is significantly higher that the incidence of isolated CDH in the general population, suggesting the presence of a heritable component.