RESUMEN

Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome.

Asunto(s)

Colestasis/complicaciones , Colestasis/genética , Heterogeneidad Genética , Linfedema/complicaciones , Linfedema/genética , Colestasis/congénito , Mapeo Cromosómico , Ligamiento Genético/genética , Haplotipos/genética , Humanos , Recién Nacido , Linfedema/congénito , Masculino , Linaje , Síndrome