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Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome

Authors

  • Louise Chuang,

    1. Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan, Republic of China
    2. Institute of Clinical Medicine, National Cheng Kung University, Tainan, Taiwan, Republic of China
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  • Keiko Wakui,

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    2. Department of Medical Genetics, Shinshu University School of Medicine, Japan
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  • Whey-Chen Sue,

    1. Department of Pediatrics, Taipei Municipal Women and Children's Hospital, Taipei, Taiwan, Republic of China
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  • Mei-Hsu Su,

    1. Department of Genetics and Health Promotion, Taipei Municipal Women and Children's Hospital, Taipei, Taiwan, Republic of China
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  • Lisa G. Shaffer,

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    2. Health Research and Education Center, Washington State University Spokane, Washington
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  • Pao-Lin Kuo

    Corresponding author
    1. Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan, Republic of China
    • Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, 138 Victory Road, Tainan, Taiwan.
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Abstract

We report a family with inherited Potocki–Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki–Shaffer syndrome. The deleted region in our case—11p11.12p11.2—is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki–Shaffer syndrome. © 2005 Wiley-Liss, Inc.

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