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Prenatal diagnosis in a female carrying a deletion close to the duchenne locus |
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| Authors: | A L Børresen H Boman P Møller K Berg |
| Institution: | 1. Department of Medical Genetics, City of Oslo, Oslo, Norway;2. Department of Medical Genetics, University of Bergen, Bergen, Norway;3. Department of Medical Genetics, City of Oslo, Oslo, Norway
Institute of Medical Genetics, University of Oslo, Oslo, Norway |
| Abstract: | Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA anaylsis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome. |
| Keywords: | DMD (Duchenne muscular dystrophy) Prenatal diagnosis of DMD DNA analysis Microdeletion in the Xp21 region |