Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis

J. B. Weinberg, S. J. Hasstedt, M. H. Skolnick, W. J. Kimberling, B. Baty

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis (BFPSTS) were found in a single individual. One hundred eighty relatives were tested for the three diseases: 74 were typed for seven blood group antigens, and 58 were typed for four electrophoretic enzyme markers. Likelihood analysis of the pedigree data confirmed independent dominant inheritance for elliptocytosis and lipomatosis. BFPSTS appears dominant, but the analysis was inconclusive. No linkages were found between any disease gene and any marker gene. Two female pedigree members with BFPSTS developed systemic lupus erythematosus, a finding in agreement with the previously described association. The analysis did not lead to any conclusions about the causal relationship between the two traits.

Original languageEnglish (US)
Pages (from-to)57-67
Number of pages11
JournalAmerican journal of medical genetics
Volume5
Issue number1
DOIs
StatePublished - 1980
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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