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KMID : 0361720060170030334
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Korean Journal of perinatology
2006 Volume.17 No. 3 p.334 ~ p.339
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A Case of Split Hand Split Foot Malformation Associated with Pericentric Inversion of Chromosome 9
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Ko Hye-Young
Kim Tae-Yeol
Park Hye-Jin
Lee Gyeong-Hun
Choi Eun-Jin
Kim Jin-Kyung
Chung Hai-Lee
Kim Woo-Taek
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Abstract
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Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits. The disease itself is considered to be very rare, affecting one out of 90,000 newborn babies. SHFM is genetically heterogeneous. To date, five SHFM loci have been mapped, to chromosome 2, 3, 7, 10 and X, respectively. We experienced a case of SHFM in a male neonate who had lobster-claw deformities of the hands and feet. The karyotype of his chromosome was 46,XY,inv (9) (p12q13). We report the case with the review of the associated literatures.
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KEYWORD
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Split hand split foot malformation, Pericentric inversion of chromosome 9
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