Evidence for a major gene in familial anencephaly

L. G. Shaffer, M. L. Marazita, J. Bodurtha, A. Newlin, W. E. Nance

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


A 21-year-old white woman sought counseling after the birth of two consecutive anencephalic male fetuses with complete rachischisis and discordant renal dysplasia. The presence of parental consanguinity prompted rconsideration of recessive inheritance. The segregation ratio from 23 additional consanguineous cases was compared with that observed in 294 presumably non-consanguineous families previously reported. Using classical segregation analysis, the segregation ratios in the non-sporadic cases were consistent with a major autosomal recessive locus in both populations.

Original languageEnglish (US)
Pages (from-to)97-101
Number of pages5
JournalAmerican journal of medical genetics
Issue number1
StatePublished - 1990
Externally publishedYes


  • consanguinity
  • spina bifida

ASJC Scopus subject areas

  • Genetics(clinical)


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