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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

Fig. 1

Pedigree of family with cavitary optic disc anomaly. Clinically affected individuals are represented by black symbols, presumably affected individuals are represented by gray symbols, unaffected individuals are represented by open symbols, and asymptomatic carriers are represented by an open symbol with a vertical black line. Examined individuals are marked with asterisks (*). Alleles are denoted by N: normal (one copy), and M: hg19 g.chr12:56238541_56,245,994 [3] (three copies of the region). Through interview with living family members, we identified two deceased individuals who had bilateral vision loss in their 40s and marked these individuals as presumably affected on the pedigree

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BMC Medical Genetics

ISSN: 1471-2350

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