Tetrasomy 15q25.3 → qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors

Authors

  • J. Hu,

    1. Pittsburgh Cytogenetics Laboratory, University of Pittsburgh Center for Human Genetics and Integrative Biology, UPMC Magee–Womens Hospital, Pittsburgh, Pennsylvania
    2. Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
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  • E. McPherson,

    1. Pittsburgh Cytogenetics Laboratory, University of Pittsburgh Center for Human Genetics and Integrative Biology, UPMC Magee–Womens Hospital, Pittsburgh, Pennsylvania
    2. Department of Pediatrics, University of Pittsburgh School of Medicine and Children's Hospital, Pittsburgh, Pennsylvania
    3. Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania
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  • U. Surti,

    1. Pittsburgh Cytogenetics Laboratory, University of Pittsburgh Center for Human Genetics and Integrative Biology, UPMC Magee–Womens Hospital, Pittsburgh, Pennsylvania
    2. Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania
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  • S.L. Hasegawa,

    1. Department of Pathology, University of Pittsburgh School of Medicine and Children's Hospital, Pittsburgh, Pennsylvania
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  • S. Gunawardena,

    1. Department of Pediatrics, University of Pittsburgh School of Medicine and Children's Hospital, Pittsburgh, Pennsylvania
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  • S.M. Gollin

    Corresponding author
    1. Pittsburgh Cytogenetics Laboratory, University of Pittsburgh Center for Human Genetics and Integrative Biology, UPMC Magee–Womens Hospital, Pittsburgh, Pennsylvania
    2. Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania
    • Department of Human Genetics, Graduate School of Public Health, 130 DeSoto Street, Pittsburgh, PA 15261.
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Abstract

We describe a girl who had been followed since birth for apparent Shprintzen-Goldberg syndrome (SGS), with macrosomia, long fingers and toes, and craniosynostosis, and presented at 4 years of age with bilateral Wilms tumors (also called nephroblastoma). Cytogenetic analysis of her peripheral blood revealed a de novo supernumerary marker chromosome. This stable marker chromosome is present in 19 of 20 lymphocytes analyzed, as well as in all 40 tumor cells (20 from each tumor) studied. Classical and molecular cytogenetic studies indicate that the marker is derived from an inverted duplication of chromosome 15q25.3 → qter and contains a neocentromere. The presence of this marker chromosome in our patient results in tetrasomy 15q25.3 → qter. The relationship between her genotype and phenotype are discussed in light of genes, including IGF1R and FES, mapped to the aneusomic segment. © 2002 Wiley-Liss, Inc.

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