A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7.
- Author:
Young Se KWON
1
;
Seung Baik HAN
;
Yong Hoon JUN
;
Byong Kwan SON
Author Information
1. Department of Pediatrics, Collage of Medicine, Inha University, Inchon, Korea.
- Publication Type:Case Report
- Keywords:
SHSF;
Chromosome 7;
Pericentric inversion
- MeSH:
Chromosome Aberrations;
Chromosomes, Human, Pair 7*;
Extremities;
Foot*;
Hand*;
Human Development;
Humans;
Incidence;
Infant, Newborn;
Parents
- From:Journal of the Korean Society of Neonatology
1998;5(2):187-192
- CountryRepublic of Korea
- Language:Korean
-
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.
