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. 1994 Oct;55(4):710–713.

Non-Mendelian transmission in a human developmental disorder: split hand/split foot.

G P Jarvik 1, M A Patton 1, T Homfray 1, J P Evans 1
PMCID: PMC1918285  PMID: 7942849

Abstract

The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split foot (SHSF), a human developmental malformation, demonstrates such distinctive genetic features as reduced penetrance and variable expressivity. In this study, new pedigrees with defined ascertainment confirm the existence of non-Mendelian transmission characterized by the overtransmission of SHSF from affected fathers to sons.

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Selected References

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