A report of three patients with an interstitial deletion of chromosome 15q24

Authors

  • Lisa J. Cushman,

    1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
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  • Wilfredo Torres-Martinez,

    1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
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  • Athena M. Cherry,

    1. Department of Pathology, Stanford University School of Medicine, Stanford, California
    2. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
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  • Melanie A. Manning,

    1. Department of Pathology, Stanford University School of Medicine, Stanford, California
    2. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
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  • Omar Abdul-Rahman,

    1. Department of Pediatrics, Stanford University School of Medicine, Stanford, California
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  • Carol E. Anderson,

    1. Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania
    2. St. Christopher's Hospital for Children, Philadelphia, Pennsylvania
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  • Hope H. Punnett,

    1. Department of Pathology and Laboratory Medicine, Drexel University College of Medicine, Philadelphia, Pennsylvania
    2. St. Christopher's Hospital for Children, Philadelphia, Pennsylvania
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  • Virginia C. Thurston,

    1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
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  • Danielle Sweeney,

    1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
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  • Gail H. Vance

    Corresponding author
    1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
    • 975 West Walnut Street, IB 264, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202.
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Abstract

Partial monosomy of the q2 region of chromosome 15 has been infrequently reported. Moreover, interstitial deletions involving 15q22-q24 have been described in only nine patients to date. The phenotype of these reported individuals is subject to the extent of the deletion but typically includes altered muscle tone and significant developmental delays. In addition, eye abnormalities, such as strabismus, microphthalmia, or colobomas, ear abnormalities including cleft earlobe and preauricular tags, and urogenital defects are common features. Congenital heart defects, diaphragmatic hernia, abnormalities of the central nervous system, and skeletal anomalies have been reported but appear to be less frequent clinical manifestations. In this report, we describe three new patients with interstitial deletions involving 15q24, two with cryptic deletions identified by fluorescence in situ hybridization (FISH) with a probe for the PML gene and one with a cytogenetically visible deletion of 15q22.3-q24. The clinical presentation of these individuals is similar to those previously described and includes global developmental delays, hypotonia, and genital abnormalities in the males. The identification of these three cases demonstrates that the above clinical features are associated with a new cytogenetic deletion syndrome. Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings. © 2005 Wiley-Liss, Inc.

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