Non-Mendelian transmission in a human developmental disorder: split hand/split foot.
case_control · Level III
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- Record sourced from PubMed, PMID 7942849.
- Also identified by PMC identifier 1918285.
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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.
Medical subject headings
- Foot Deformities, Congenital
- Hand Deformities, Congenital