J Korean Soc Neonatol.
1998 Nov;5(2):187-192.
A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7
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- 1Department 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.
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