Article
Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.
Clinical genetics - 1 Sept 2000
Grant S G, Wenger S L, Latimer J J, Thull D, Burke L W
Abstract excerpt
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...
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