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학술저널
저자정보
Cho, In Ae (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Park, Ji Kwon (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Baek, Jong Chul (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Ha, A Na (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Kang, Min Young (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Lee, Jae Ik (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Park, Ji Eun (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Shin, Jeong Kyu (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Choi, Won Jun (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Lee, Soon Ae (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) Lee, Jong Hak (Department of Obstetrics and Gynecology, Gyeongsang National Universit) Paik, Won Young
저널정보
대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제12권 제2호
발행연도
2015.1
수록면
123 - 127 (5page)

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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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