Genetic modelling of dizygotic twinning in pedigrees of spontaneous dizygotic twins

Wim J. Meulemans, Cathryn M. Lewis, Dorret I. Boomsma, Catherine A. Derom, Herman Van Den Berghe, Jakobus F. Orlebeke, Robert F. Vlietinck, Robert M. Derom

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The inheritance of spontaneous dizygotic (DZ) twinning was investigated in 1,422 three-generation pedigrees ascertained through mothers of spontaneous DZ proband twins. DZ twinning was modelled as a trait expressed only in women. The penetrance was modelled first as a parity independent and secondly as parity dependent. The observed frequencies of maternal and paternal grandmothers with DZ twins differed significantly from the expectations under an X-linked mode of inheritance. Complex segregation analysis showed that the parity-independent phenotype of 'having DZ twins' was consistent with an autosomal monogenic dominant model, with a gene frequency of 0.035 and a female-specific lifetime penetrance of 0.10. Recessive, polygenic, and sporadic models were rejected. The autosomal dominant model revealed a strong robustness against a changing population prevalence and the loss of information due to the presence of same-sexed twin pairs of unknown zygosity. When DZ twinning was modelled as a parity dependent trait, the data were compatible with an autosomal dominant model with a gene frequency of 0.306 and a penetrance of 0.03 per birth for female gene carriers.

Original languageEnglish
Pages (from-to)258-263
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 22 Jan 1996
Externally publishedYes


  • dizygotic twinning
  • pedigree analysis
  • segregation analysis


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