A split hand-split foot (SHFM3) gene is located at 10q24-->25.
Am J Med Genet
; 62(4): 427-36, 1996 Apr 24.
Article
en En
| MEDLINE
| ID: mdl-8723077
The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 10
/
Deformidades Congénitas del Pie
/
Deformidades Congénitas de la Mano
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1996
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos