Robertsonian translocations in Paget's disease of bone
| Autor: | Emily Kudo, Barbara G. Mills, Robert K. Rude, Jun Oizumi |
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| Rok vydání: | 1997 |
| Předmět: |
Male
Pathology medicine.medical_specialty Osteoporosis Chromosomal translocation Disease Biology Translocation Genetic Article Bone remodeling Internal medicine Skeletal disease medicine Humans Orthopedics and Sports Medicine Aged Aged 80 and over Chromosomes Human Pair 14 Chromosomes Human Pair 15 Chromosomes Human Pair 13 Karyotype Middle Aged Osteitis Deformans medicine.disease Phenotype Paget's disease of bone Karyotyping Female |
| Zdroj: | Journal of Orthopaedic Research. 15:477-481 |
| ISSN: | 1554-527X 0736-0266 |
| Popis: | The karyotypes of 14 patients with Paget's disease of bone were studied. The patients were recruited from our bone metabolism clinic where they received specific therapy for their skeletal disease. Eight of the 14 patients had chromosomal translocations localized to the D and G groups. None of the patients were related to one another, nor had any had the same lifelong environment. Thus, 57% of a sample of active patients with Paget's disease had Robertsonian translocations. By comparison, an age and sex-matched group of eight controls and 13 patients with osteoporosis who had been treated with bisphosphonates demonstrated no Robertsonian translocations. The prevalence of Robertsonian translocations in 14,000 newborns was reported to be 0.1%. These data suggest that a factor from the environment introduced during the lifetime of the patient could be present and could, in addition to genetic factors, affect gene replication during the development of Paget's disease. |
| Databáze: | OpenAIRE |
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