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 language | English (US) |
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Pages (from-to) | 1079-1082 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 164 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2014 |
Keywords
- 18q duplication
- Nephroblastomatosis
- Partial trisomy 18
- Trisomy 18
- Wilms tumor
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)