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Fig. 1 | Human Genomics

Fig. 1

From: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Fig. 1

Identification of disease locus on chromosome 6: a Pedigree of extended family with a novel syndromic disorder. b Genome-wide linkage analysis revealed a peak with a maximum LOD score of 4.11 on chromosome 6. c AutoSNPa output for chromosome 6 reveals an ROH (boxed in red) shared among affected members (V:2, V:3, V:4, and V:8) and not present in unaffected individuals or parents. Output for chromosome 18 excludes this locus because the ROH is not shared with affected individual V:10

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Human Genomics

ISSN: 1479-7364