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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report

Fig. 4

Whole exome sequencing identified a heterozygosity frameshift insertion of 1 base pair involving exon 6 of the ESCO2 gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs) in the couple (A, B) and a homozygous mutation of this allele site (C, D). Sanger sequencing confirmed the mutation. Both members of the couple were heterozygous for the mutation (F, H), and the fetus had a homozygous mutation (G). E Represents a reference sequence of the ESCO2 gene

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BMC Medical Genomics

ISSN: 1755-8794

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