Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy
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 distin...
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| Published in | Human genetics Vol. 86; no. 2; p. 241 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Germany
01.12.1990
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| Subjects | |
| Online Access | Get more information |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Kjellberg, P Desgeorges, M Claustres, M Demaille, J Bellet, H |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/1979959$$D View this record in MEDLINE/PubMed |
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| Snippet | We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length... |
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| SubjectTerms | DNA Probes Female Humans Male Mosaicism Muscular Dystrophies - genetics Pedigree Polymorphism, Restriction Fragment Length |
| Title | Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy |
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