Fig. 1From: Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, ChinaCase 4: A The fetus carried the c.7842 T > A (p. Ala2614Ala) mutation in the FBN1 gene. B The deletion of c.2135-3_2135-2delCA in the OBSL1 gene was detected. The Sanger verification revealed that the mutation was carried by the father while the deletion was carried by the motherBack to article page