Chromosomal Anomaly in Currarino Syndrome

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  • Okamoto Shinya
    Department of Pediatric Surgery, Kanazawa Medical University
  • Fukumoto Hironori
    Department of Pediatric Surgery, Kanazawa Medical University
  • Masuyama Hiroaki
    Department of Pediatric Surgery, Kanazawa Medical University
  • Konuma Kunio
    Department of Pediatric Surgery, Kanazawa Medical University
  • Kohno Miyuki
    Department of Pediatric Surgery, Kanazawa Medical University
  • Kita Mikiko
    Division of Human Genetics, the Medical Research Institute, Kanazawa Medical University
  • Ozaki Mamoru
    Division of Human Genetics, the Medical Research Institute, Kanazawa Medical University
  • Ikawa Hiromichi
    Department of Pediatric Surgery, Kanazawa Medical University

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Other Title
  • クラリーノ症候群における染色体異常
  • クラリーノ ショウコウグン ニ オケル センショクタイ イジョウ

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Purpose : Relationship between Currarino syndrome and chromosomal anomaly was investigated. Methods : Chromosomes of 9 patients with Currarino syndrome in our university were investigated using G band analysis. In the case of 7q terminal deletion, fluorescent in situ hybridization (FISH) with a specific probe for 7q telomere was added. Results : Two of the 9 patients had 7q terminal deletion. These two patients had mental retardation, craniosynostosis and facial anomaly as well as Currarino syndrome. Conclusion : In our study, two of the 9 patients with Currarino syndrome had 7q terminal deletions. It was due to deletion of HLXB9, located at 7q36 and recently identified as a locus for Currarino syndrome. Currarino syndrome with chromosomal anomaly carries mental retardation, craniosynostosis and facial anomaly. Alternatively, Currarino syndrome is one of the phenotypic manifestations of 7q terminal deletion syndrome.

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