A Case of Split Hand Split Foot Malformation Associated with Pericentric Inversion of Chromosome 9.
- Author:
Hye Young KO
1
;
Tae Yeol KIM
;
Hye Jin PARK
;
Kyung Hoon LEE
;
Eun Jin CHOI
;
Jin Kyung KIM
;
Hai Lee CHUNG
;
Woo Taek KIM
Author Information
1. Department of Pediatrics, College of Medicine, Catholic University of Daegu, Daegu, Korea. wootykim@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Split hand split foot malformation;
Pericentric inversion of chromosome 9
- MeSH:
Chromosomes, Human, Pair 2;
Chromosomes, Human, Pair 9*;
Congenital Abnormalities;
Foot*;
Hand*;
Human Development;
Humans;
Infant, Newborn;
Karyotype;
Male
- From:Korean Journal of Perinatology
2006;17(3):334-339
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
