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Table 1 Limb features of family members

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

Individual Gender Upper limbs Lower limbs Phenotype 17p13.3 genomic rearrangement
Left Right Left Right
I1 F Ectrodactyly with a central cleft Ectrodactyly with a central cleft Normal Normal SHFM Y
II1 M Ectrodactyly with a central cleft Forearm reduction defect Femora hypoplasia, lower leg reduction defect Femora hypoplasia, lower leg reduction defect SHFLD Y
II2 F Unilateral ectrodactyly with a central cleft Normal Normal SHFM NT
II4 F Normal Normal Normal Normal Normal N
II6 F Normal Ectrodactyly with a central cleft, clinodactyly in the third and fourth digits Normal Normal SHFM Y
II8 F Normal Syndactyly Normal Normal SHFM Y
III6 F Normal Normal Normal Normal Carrier Y
III8 M Normal Normal Normal Normal Carrier Y
III9 F Normal Normal Normal Normal Normal N
IV3 F Ectrodactyly and syndactyly with a central cleft Ectrodactyly and syndactyly with a central cleft Leg flexion deformity Leg flexion deformity SHFLD? NT
IV4 NA Ectrodactyly, metacarpale reduction defect Ectrodactyly, metacarpale reduction defect Tibia or fibula reduction defect, leg flexion deformity Tibia or fibula reduction defect, leg flexion deformity SHFLD NT
IV5 M Syndactyly Normal Normal Normal SHFM Y
IV6 M Split hand between index and other three fingers Normal Normal Normal SHFM Y
  1. F, female; M, male; NA, not available; Y, yes; N, no; NT, not tested