Abstract
This is a report of a trisomy 18 patient who developed Wilms tumor in conjunction with perilobar nephroblastomatosis (NB) at 9 years and 5 months of age. Review of the literature revealed that most patients with trisomy 18 who develop Wilms tumor, do so at a later than expected age for a tumor related to NB, and are females. In this case, no chromosome 11 WT1 mutation was detected by PCR/SSCP analysis, but the tumor had in addition to the trisomy, an isochromosome 7q and loss of heterozygosity at 16q, two mutations that have been linked independently to Wilms tumorigenesis.
Original language | English (US) |
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Pages (from-to) | 52-55 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 121 A |
Issue number | 1 |
DOIs | |
State | Published - Aug 15 2003 |
Keywords
- Chromosome 16
- Chromosome 7
- Nephroblastomatosis
- Trisomy 18
- Wilms tumor
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)