A Case of Mosaic Tetrasomy 12p (Pallister-Killian Syndrome): Clinical Definition of Hypomelanosis of Ito among Mosaicisms for Abnormal Chromosomes

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  • Ono Noriko
    Department of Dermatology, Keio University School of Medicine
  • Matsui Yoriko
    Department of Pediatrics, Keio University School of Medicine
  • Kosaki Kenjiro
    Center for Medical Genetics, Keio University School of Medicine
  • Tanaka Masaru
    Department of Dermatology, Tokyo Women's Medical University Medical Center East
  • Amagai Masayuki
    Department of Dermatology, Keio University School of Medicine
  • Kubo Akiharu
    Department of Dermatology, Keio University School of Medicine

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Other Title
  • 12番短腕テトラソミーモザイク（Pallister-Killian症候群）の1例～染色体異常モザイク疾患における診断名“hypomelanosis of Ito”の位置づけ～
  • 12バン タンワン テトラソミーモザイク(Pallister-Killian ショウコウグン)ノ 1レイ : センショクタイ イジョウ モザイク シッカン ニ オケル シンダンメイ"hypomelanosis of Ito"ノ イチズケ

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<p>Pallister-Killian syndrome is caused by mosaic tetrasomy 12p; the clinical features are hypomelanotic streaks along Blaschko's lines, temporal and frontal balding with woolly hair, overgrowth, and psychomotor retardation. Herein we report a case of Pallister-Killian syndrome and discuss the clinical definition of hypomelanosis of Ito, which is now considered to be general term for mosaicism showing streaks of hypopigmentation along Blaschko's line and psychomotor retardation.</p>

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