Skip to main content
Fig. 2 | BMC Medical Genetics

Fig. 2

From: Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

Fig. 2

Sequencing of the couple’s DNA and amniocyte DNA. a The foetus harboured the c.1238G > C mutation in the F7 gene inherited from his father (II-2), who is a carrier of the compound heterozygous mutations c.1238G > A and c.1238G > C in the F7 gene. b The mother (II-1) harboured the heterozygous c.1126A > T F7 mutation, but this mutation was absent in the foetus. c The father (II-2) harboured the heterozygous c.3659C > T mutation in the CFTR gene, but this mutation was absent in the foetus. d The foetus harboured the c.3209G > A mutation in the CFTR gene inherited from his mother (II-1). The red arrows indicate c.1238 and c.1126 in F7, and c.3659 and c.3209 in CFTR

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us