Abstract
The family reported herein serves as a genetically and historically important vignette on the issues of nonpenetrance (versus germinal mosaicism) in nonsyndromic autosomal dominant ectrodactyly and the Eugenics Law of Germany of 14 July 1933, which was used to coerce the sterilization of the propositus despite infertility in his first marriage. In a sibship of seven children (with normal parents), three boys were affected. The propositus (adoptive grandfather of the author) was the patient of Paul Leopold Friedrich and Georg Perthes, who published their observations on the propositus. Except for an adopted daughter, the propositus was childless. His two affected brothers each had an affected child, and the father- to son transmission confirmed the hypothesis of autosomal dominant inheritance. The issue of nonpenetrance versus germinal mosaicism in ectrodactyly was debated by Auerbach [1956:Ann Hum Genet 20:266-269] and Vogel [1958:Ann Hum Genet 22:132-137], and remains unresolved.
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | American Journal of Medical Genetics. Part C: Seminars in Medical Genetics |
| Vol/bind | 110 |
| Udgave nummer | 2 |
| Sider (fra-til) | 184-90 |
| Antal sider | 7 |
| ISSN | 1552-4868 |
| DOI | |
| Status | Udgivet - 2002 |