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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

Fig. 1

Pedigree and limb defects of affected subjects. a Pedigree showing dominant inheritance with reduced penetrance. b Ectrodactyly with split hand of patient I1. c-d Ectrodactyly with split left hand of II1 (c). The hypoplastic right forearm with no hand, ulna and radius of II1 (d). Patient II1 also affected with symmetric hypoplastic femora and absence of bilateral lower legs. e Unilateral ectrodactyly with split hand of II6. f. Unilateral clinodactyly in middle digit of II8. g Abnormal left split hand of the aborted fetus IV6

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