A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

Authors

  • Chih-Ping Chen,

    Corresponding author
    1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    3. Department of Medical Technology, Yuanpei University of Science and Technology, Hsinchu, Taiwan, Republic of China
    4. College of Chinese Medicine, China Medical University, Taichung, Taiwan, Republic of China
    • Department of Obstetrics and Gynecology, Mackay Memorial Hospital 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, Republic of China.
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  • Schu-Rern Chern,

    1. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
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  • Shuan-Pei Lin,

    1. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    2. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
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  • Chyi-Chyang Lin,

    1. Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan, Republic of China
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  • Yueh-Chun Li,

    1. Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan, Republic of China
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  • Tzu-Hao Wang,

    1. Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang-Gung Memorial Hospital, Tao-Yuan, Taiwan, Republic of China
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  • Chen-Chi Lee,

    1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
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  • Chen-Wen Pan,

    1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
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  • Lie-Jiau Hsieh,

    1. Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan, Republic of China
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  • Wayseen Wang

    1. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
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Abstract

A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion. © 2005 Wiley-Liss, Inc.

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