caa a22 4500 467986606 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197706 doi (NATIONALLICENCE)springer-10.1007/BF00197706 Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families? [Elektronische Daten] [Catherine Bonaïti-Pellié, Françoise Clerget-Darpoux, Marie-Claude Babron] Summary: Although the retinoblastoma gene has been isolated and sequenced, the difference in penetrance and expressivity among families has not yet been fully explained. Balanced chromosomal insertion involving the 13q14 regions has been shown to account for some families with several unaffected carriers. Since there could be cases with karyotypically undetectable insertions, we tested whether this mechanism was general enough to explain the whole difference in expressivity among families. Using 166 pedigrees, reported in nine series available in the literature (including our own), we conclude that balanced insertion cannot entirely explain the familial data, even if we allow for a reduced viability of unbalanced gametes. Other mechanisms are proposed and discussed in this paper. Springer-Verlag, 1990 Bonaïti-Pellié Catherine Unité de Recherches d'Epidémiologie Génétique (U.155 INSERM), Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Clerget-Darpoux Françoise Unité de Recherches d'Epidémiologie Génétique (U.155 INSERM), Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Babron Marie-Claude Unité de Recherches d'Epidémiologie Génétique (U.155 INSERM), Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Human Genetics Springer-Verlag 86/2(1990-12-01), 203-208 0340-6717 86:2<203 1990 86 439 https://doi.org/10.1007/BF00197706 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197706 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bonaïti-Pellié Catherine Unité de Recherches d'Epidémiologie Génétique (U.155 INSERM), Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Clerget-Darpoux Françoise Unité de Recherches d'Epidémiologie Génétique (U.155 INSERM), Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Babron Marie-Claude Unité de Recherches d'Epidémiologie Génétique (U.155 INSERM), Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 203-208 0340-6717 86:2<203 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer