caa a22 4500 467986622 CHVBK 20180323112534.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197714 doi (NATIONALLICENCE)springer-10.1007/BF00197714 Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy [Elektronische Daten] [Mireille Claustres, Paule Kjellberg, Marie Desgeorges, Hélène Bellet, Jacques Demaille] Summary: We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distinct types of X chromosomes to his offspring. This original observation may be explained by postulating that the DMD mutation must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism within this male ancestor. Springer-Verlag, 1990 Claustres Mireille INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut Kjellberg Paule INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut Desgeorges Marie INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut Bellet Hélène INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut Demaille Jacques INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut Human Genetics Springer-Verlag 86/2(1990-12-01), 241-243 0340-6717 86:2<241 1990 86 439 https://doi.org/10.1007/BF00197714 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197714 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Claustres Mireille INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut NATIONALLICENCE 700 1- Kjellberg Paule INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut NATIONALLICENCE 700 1- Desgeorges Marie INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut NATIONALLICENCE 700 1- Bellet Hélène INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut NATIONALLICENCE 700 1- Demaille Jacques INSERM U 249, CRBM / CNRS UPR 8402 and GREPAM, Institut de Biologie, F-34000, Montpellier, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 241-243 0340-6717 86:2<241 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer