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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

Fig. 3

Family pedigree diagnosed with the compound, heterozygous ATM pathogenic variant. The black filled‐in pedigree member is the patient (c.742C > T (p.Arg248Ter) and deletion of exons 24–40), the blue half‐filled pedigree member indicates the heterozygous carrier, c.742C > T (p.Arg248Ter), whereas the red half‐filled pedigree member is the heterozygous carrier with a novel CNV, deletion of exons 24–40. CNV copy number variation

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BMC Medical Genomics

ISSN: 1755-8794

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