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

Table 1 Limb features of family members

Individual	Gender	Upper limbs		Lower limbs		Phenotype	17p13.3 genomic rearrangement
Individual	Gender	Left	Right	Left	Right	Phenotype	17p13.3 genomic rearrangement
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

ISSN: 1750-1172