title: Evidence for a major gene in familial anencephaly.
abstract: 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 reconsideration of recessive inheritance. The segregation ratio from 23 additional consanguineous cases was compared with that observed in 294 presumably nonconsanguineous 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.
authors.affiliation: Department of Human Genetics, Medical College of Virginia, Richmond.
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: M L
authors.initials: ML
authors.lastname: Marazita
authors.forename: J
authors.initials: J
authors.lastname: Bodurtha
authors.forename: A
authors.initials: A
authors.lastname: Newlin
authors.forename: W E
authors.initials: WE
authors.lastname: Nance
mesh_terms: D000022:Abortion, Spontaneous; D000757:Anencephaly / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D011247:Pregnancy; D012744:Sex Ratio