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Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

Abstract
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.
AuthorsK L Ying, J Oizumi, C J Curry
JournalJournal of medical genetics (J Med Genet) Vol. 27 Issue 4 Pg. 258-60 (Apr 1990) ISSN: 0022-2593 [Print] England
PMID2325107 (Publication Type: Case Reports, Journal Article)
Topics
  • Child
  • Chromosomes, Human, Pair 8
  • Humans
  • Male
  • Mosaicism
  • Rothmund-Thomson Syndrome (diagnosis, genetics)
  • Skin Diseases (genetics)
  • Trisomy

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