Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism

Noralane M. Lindor, Ellen M.G. Devries, Virginia V. Michels, Christopher R. Schad, Syed M. Jalal, Kathleen M. Donovan, William A. Smithson, Larry K. Kvols, Stephen N. Thibodeau, Gordon W. Dewald

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69 Scopus citations


Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by skin abnormalities that appear in infancy, skeletal abnormalities, juvenile cataracts and other manifestations of premature aging, and a predisposition to malignancy. The diagnosis is made on clinical grounds as no consistent laboratory test has been identified. Chromosome studies have been reported for only three patients with RTS and in two of these three, trisomy 8 mosaicism was found. We performed a variety of cytogenetic and molecular genetic studies on two siblings with RTS and on their phenotypically normal parents. Two chromosomally abnormal clones involving either trisomy 8 or i(8q) were found in both patients with RTS. These clones were present in vivo, as they were seen in interphase buccal smears and lymphocytes from unstimulated preparations using both conventional cytogenetic studies and fluorescence in situ hybridization (FISH) with a centromere probe for chromosome 8. These results suggest that RTS is associated with in vivo clonal chromosomal rearrangements causing an acquired somatic mosaicism.

Original languageEnglish (US)
Pages (from-to)124-129
Number of pages6
JournalClinical Genetics
Issue number3
StatePublished - Mar 1996


  • Osteosarcoma
  • Poikiloderma
  • Premature aging
  • Somatic mosaicism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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