Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.

doi:10.1034/j.1399-0004.2000.580308.x

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.

Abstract excerpt

Topics

Related research