Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

Lois J. Starr, Jennifer N. Sanmann, Ann Haskins Olney, Melissa Wandoloski, Warren G. Sanger, Donald W. Coulter

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications.

Original languageEnglish (US)
Pages (from-to)1079-1082
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number4
DOIs
StatePublished - Apr 2014

Keywords

  • 18q duplication
  • Nephroblastomatosis
  • Partial trisomy 18
  • Trisomy 18
  • Wilms tumor

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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