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Figure 1 | BMC Medical Genetics

Figure 1

From: Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene

Figure 1

Pedigree of the family. The figure also shows haplotype analysis using markers encompassing both EVC and EVC2. The c.1868T>C variant is also presented in relation to the three markers used for linkage. The position of the markers is indicated in kilobase pairs from 4pter according to the March 2006 genome build. A hyphen (-) in the haplotype table means the marker was not typed in that person. The small "x" in the haplotype of individuals IV-11 and IV-15 indicates the suggested crossovers. The neonatal deaths of individuals IV-18 to IV-22 are thought to be caused by the same phenotype that affected the patients described in the case report. They had polydactyly and are thought to have congenital heart disease as they died in the neonatal period with cyanosis.

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BMC Medical Genetics

ISSN: 1471-2350

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