Journal article
Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18
American journal of medical genetics. Part A, v 121A(1), pp 52-55
15 Aug 2003
PMID: 12900902
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
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Details
- Title
- Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18
- Creators
- Carol E Anderson - St. Christopher's Hospital for ChildrenHope H Punnett - Drexel UniversityVicki Huff - GeneticsJean-Pierre de Chadarévian - Drexel University
- Publication Details
- American journal of medical genetics. Part A, v 121A(1), pp 52-55
- Publisher
- Wiley
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000184516600010
- Scopus ID
- 2-s2.0-0041822121
- Other Identifier
- 991019168819304721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity