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Polydactyly in a carrier of the gene for the Meckel syndrome
J Nelson1, N C Nevin, E J Hanna
1Department of Paediatrics, Westmead Hospital, Sydney, NSW, Australia.
Abstract:
Much of the Meckel syndrome literature has been concerned with the criteria for diagnosis but little has been said concerning heterozygote expression. We describe 3 affected brothers whose father and his paternal first cousin had postaxial polydactyly of both feet. A review of the literature was undertaken with regard to possible manifesting heterozygotes. We conclude that it is important to examine the relatives of patients with the Meckel syndrome for mild abnormalities, as these may be evidence of a manifesting heterozygote. Such information may be useful for genetic counselling.
Insights
Meckel syndrome diagnosis often overlooks heterozygote expression. Examining relatives for mild abnormalities, like polydactyly, can reveal manifesting heterozygotes, aiding genetic counseling for Meckel syndrome.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
Background:
- Meckel syndrome diagnosis criteria are well-documented.
- Heterozygote expression in Meckel syndrome is under-researched.
- Identifying manifesting heterozygotes is crucial for genetic counseling.
Purpose of the Study:
- To investigate heterozygote expression in Meckel syndrome.
- To highlight the significance of mild abnormalities in relatives of affected individuals.
- To emphasize the role of manifesting heterozygotes in genetic counseling.
Main Methods:
- Literature review on Meckel syndrome and heterozygote expression.
- Case description of three affected brothers.
- Examination of family members for phenotypic abnormalities.
Main Results:
- Described three brothers with Meckel syndrome.
- Identified postaxial polydactyly in the father and a paternal cousin.
- Literature review supported the concept of manifesting heterozygotes.
Conclusions:
- Mild abnormalities in relatives may indicate manifesting heterozygotes.
- Screening relatives for subtle signs is important for Meckel syndrome.
- Recognizing manifesting heterozygotes improves genetic counseling accuracy.