Analysis of Genomic Instability using Multiple Assays in a Patient with Rothmund-Thomson Syndrome
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We report on a patient with Rothmund–Thomson syndrome (RTS) whose cytogenetic evaluation showed a normal karyotype with no evidence of trisomy mosaicism or chromosomal rearrangements. Cultured lymphocytes from the patient, her mother, and a control exposed to mitomycin C and diepoxybutane did not show increased sensitivity to the dialkylating agents. Unlike some previous reports, we found no evidence of a deficiency in nucleotide excision repair, as measured with the functional unscheduled DNA synthesis assay. Glycophorin A analysis of red blood cells for somatic mutation revealed suspiciously high frequencies of both allele loss and loss-and-duplication variants in the blood of the patient, a pattern consistent with observations in other RecQ-related human diseases, and evidence for clonal expansion of a mutant clone in the mother. Discrepant results in the literature may reflect true heterogeneity in the disease or the fact that a consistent set of tests has not been applied to RTS patients.
Medical Specialties | Medicine and Health Sciences | Osteopathic Medicine and Osteopathy
Grant, Stephen G.; Wenger, Sharon L.; Latimer, Jean J.; Thull, Darcy; and Burke, L W., "Analysis of Genomic Instability using Multiple Assays in a Patient with Rothmund-Thomson Syndrome" (2000). College of Osteopathic Medicine Faculty Articles. 606.