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Am J Med Genet A. 2014 Apr;164A(4):1079-82. doi: 10.1002/ajmg.a.36432. Epub 2014 Mar 4.

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

Author information

1
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.

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 55 Mb 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.

KEYWORDS:

18q duplication; Wilms tumor; nephroblastomatosis; partial trisomy 18; trisomy 18

PMID:
24596125
DOI:
10.1002/ajmg.a.36432
[Indexed for MEDLINE]

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