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KMID : 1189120150120020123
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대한의학유전학회지
2015 Volume.12 No. 2 p.123 ~ p.127
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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
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Cho In-Ae
Park Ji-Kwon
Baek Jong-Chul
Ha A-Na
Kang Min-Young
Lee Jae-Ik
Park JI-Eun
Shin Jeong-Kyu
Choi Won-Jun
Lee Soon-Ae
Lee Jong-Hak
Paik Won-Young
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Abstract
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Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.
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KEYWORD
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Split-hand-foot malformation with long bone deficiency, 17p13.3, BHLHA9, Comparative genomic hybridization
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