First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

Authors

  • Jill K. Northup,

    1. Department of Pathology, University of Texas Medical Branch, Galveston, Texas
    Current affiliation:
    1. UW Cytogenetic Services-WSLH, 465 Henry Mall, Madison, WI 53706.
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  • Kären E. Wain,

    1. Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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  • Judy C. Hawkins,

    1. Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas
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  • Reuben Matalon,

    1. Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas
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  • Gopalrao V.N. Velagaleti

    Corresponding author
    1. Department of Pathology, University of Texas Medical Branch, Galveston, Texas
    2. Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
    3. Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas
    • Cytogenetics, Hilton 970, Mayo Clinic, 200 First Street SW, Rochester, MN 55905.
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  • How to cite this article: Northup JK, Wain KE, Hawkins JC, Matalon R, Velagaleti GVN. 2008. First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies. Am J Med Genet Part A 146A:2578–2582.

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