Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

Authors

  • Osamu Shimokawa,

    1. Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    2. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    3. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Noriko Miyake,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Takazumi Yoshimura,

    1. Department of Obstetrics and Gynecology, Kitakyushu Municipal Medical Center, Kitakyushu, Japan
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  • Nadiya Sosonkina,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Naoki Harada,

    1. Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    2. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    3. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Takeshi Mizuguchi,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Shinji Kondoh,

    1. Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University, Nagasaki, Japan
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  • Tatsuya Kishino,

    1. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
    2. Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University, Nagasaki, Japan
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  • Tohru Ohta,

    1. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
    2. The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Ishikari-tobetsu, Japan
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  • Visser Remco,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
    3. International Consortium for Medical Care of Hibakusha and Radiation Life Science, The 21st Century Center of Excellence (COE), Nagasaki, Japan
    4. Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokahama, Japan
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  • Takeshi Takashima,

    1. Maternity and Perinatal Center, Kitakyushu Municipal Medical Center, Kitakyushu, Japan
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  • Akira Kinoshita,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Koichiro Yoshiura,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Norio Niikawa,

    1. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Naomichi Matsumoto

    Corresponding author
    1. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
    2. Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokahama, Japan
    • Department of Human Genetics, Yokahama City University Graduate School of Medicine, Fukuura 3–9, Kanazawa-ku, Yokohama 236-0004, Japan.
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Abstract

A 36-week-old fetus was referred to the medical center because of his cystic mass and fluid in left thoracic cavity, and was delivered by cesarean section to manage neonatal problems at 37 weeks of gestation. Emergent surgical repair of the left diaphragmatic hernia was performed, but severe hypoxia persisted, and he expired on the following day. Chromosome analysis of cultured amniotic fluid cells indicated 46,XY,del(8)(p23.1p23.1). This is the fourth case of 8p23.1 deletion associated with diaphragmatic hernia. Microarray comparative genomic hybridization analysis using DNA of cultured amniotic fluid cells showed that six clones were deleted, which were mapped to the region between two low copy repeats (LCRs) at 8p23.1 previously described. Microsatellite analysis revealed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion. These data strongly suggested that the 8p23.1 interstitial deletion should have arisen through a different mechanism from that of inv dup del(8p) whose structural abnormality is always of maternal origin and accompanies heterozygous 8p23.1 polymorphic inversion in mother. © 2005 Wiley-Liss, Inc.

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