A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male

Authors

  • Page L. Sorensen,

    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
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  • Kirin Basuta,

    1. Department of Biochemistry and Molecular Medicine, University of California at Davis, School of Medicine, Davis, California
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  • Guadalupe Mendoza-Morales,

    1. Department of Biochemistry and Molecular Medicine, University of California at Davis, School of Medicine, Davis, California
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  • Louise W. Gane,

    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
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  • Andrea Schneider,

    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
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  • Randi Hagerman,

    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
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  • Flora Tassone

    Corresponding author
    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Biochemistry and Molecular Medicine, University of California at Davis, School of Medicine, Davis, California
    • Department of Biochemistry and Molecular Medicine, University of California Davis, Oak Park Research Building, Suite 102, 2700 Stockton Blvd, Sacramento, CA 95817; MIND Institute Wet Lab, 2805 50th Street Room 2460, Sacramento, CA 95817.

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  • This work is dedicated to the memory of Matteo.

  • How to Cite this Article: Sorensen PL, Basuta K, Mendoza-Morales G, Gane LW, Schneider A, Hagerman R, Tassone F. 2012. A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male. Am J Med Genet Part A. 158A:1221–1224.

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