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Journal of the Korean Society of Neonatology 1998;5(2):187-192.
Published online January 1, 2001.
A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7.
Young Se Kwon, Seung Baik Han, Yong Hoon Jun, Byong Kwan Son
Department of Pediatrics, Collage of Medicine, Inha University, Inchon, Korea.
Abstract
Split hand and split foot(SHSF) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft resulting in a clawlike appearance of the hands and feets. SHSF is usually inherited in an autosomer dominant fashion. The incidence of SHSF is between 1/10,000 and 1/90,000. Thirteen cases of SHSF and chromosomal aberrations involving 7q21-22 have been described so far in the world. We experienced a case of typical tetramelic SHSF in neonate. Chromosome studies showed a pericentric inversion of chromosome 7:46,XY,inv(7) (p22q22). Inspection of the extremities and chromosome studies in the parents were normal.
Key Words: SHSF, Chromosome 7, Pericentric inversion
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