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. 2014 Feb;24(2):291–299. doi: 10.1101/gr.160572.113

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© 2014 Shaheen et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported), as described at http://creativecommons.org/licenses/by-nc/3.0/.

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Figure 2. — Identification of a novel Seckel syndrome locus linked to Chr10. (A) Pedigree and clinical photographs of the PD_F6 family. The index is indicated by a red arrow, and asterisks denote individuals whose DNA was available for analysis. Please note that the degree of consanguinity between II:1 and II:2 was not determined by parents (blue triangle) but was inferred by the size of the autozygome to be second- or third-degree consanguinity. The clinical photographs of the two affected (III:1 and II:5) show the typical Seckel “bird-like” face. (B) HomozygosityMapper reveals only one ROH on chromosome 10 shared between the two affected (red arrow), and AutoSNPa highlights a corresponding ROH of 7.6 Mb (boxed in red) exclusively shared between PD_F6_II:5 and PD_F6_III:1.