Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
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 lymph...
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Veröffentlicht in: | The Journal of pediatrics 2003-04, Vol.142 (4), p.441-447 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. (J Pediatr 2003;142:441-7 ) |
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ISSN: | 0022-3476 1097-6833 |
DOI: | 10.1067/mpd.2003.148 |