Robertsonian translocations in Paget's disease of bone

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...

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Veröffentlicht in:Journal of orthopaedic research 1997-05, Vol.15 (3), p.477-481
Hauptverfasser: Mills, Barbara G., Oizumi, Jun, Kudo, Emily, Rude, Robert
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container_title Journal of orthopaedic research
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creator Mills, Barbara G.
Oizumi, Jun
Kudo, Emily
Rude, Robert
description 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.
doi_str_mv 10.1002/jor.1100150324
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subjects Aged
Aged, 80 and over
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 15
Diseases
Female
Genes
Humans
Karyotyping
Male
Metabolism
Middle Aged
Osteitis Deformans - genetics
Phenotype
Translocation, Genetic
title Robertsonian translocations in Paget's disease of bone
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