A preterm Wolf-Hirschhorn syndrome boy, who has also duplication of 19q, shows unexpected clinical course

DOI
  • Shiraki Anna
    Department of Pediatrics, Anjo Kosei Hospital, Anjo, Aichi
  • Fukasawa Tatsuya
    Department of Pediatrics, Anjo Kosei Hospital, Anjo, Aichi
  • Kubota Tetsuo
    Department of Pediatrics, Anjo Kosei Hospital, Anjo, Aichi
  • Kato Yuichi
    Department of Pediatrics, Anjo Kosei Hospital, Anjo, Aichi
  • Murakami Ryoko
    Research Institute of Microbial Diseases, Osaka University, Suita, Osaka
  • Matsumoto Naomichi
    Department of Genetics, Yokohama City University, Yokohama, Kanagawa
  • Miyatake Satoko
    Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa

Bibliographic Information

Other Title
  • 19番染色体部分トリソミーを合併し非典型的な臨床経過を示したWolf-Hirschhorn syndromeの早産児例

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Description

<p>  The patient was a boy, born at 33 weeks by emergency Caesarian section due to non-reassuring fetal status. The birth weight was 1,070 g (−3.57 SD). The patient had a number of anomalies, such as upper airway stenosis, micrognathia, pulmonary artery stenosis, and widely spaced eyes. He had a subclinical seizure on day 1 and had suffered from refractory clonic seizures since the age of 2 months. Whole-exome sequencing revealed deletion of 4p (4p16.3-16.2), known as Wolf-Hirschhorn syndrome (WHS), and duplication of 19q (19q13.33-13.43). Partial duplication of 19q and preterm delivery may modify the characteristics of WHS and worsen epileptic seizures, rendering diagnosis of WHS difficult. We suggest all-inclusive gene analysis, especially when the symptoms differ from those expected from the natural course of the syndrome.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 50 (5), 355-359, 2018

    The Japanese Society of Child Neurology

Keywords

Details 詳細情報について

  • CRID
    1390282763049607552
  • NII Article ID
    130007493516
  • DOI
    10.11251/ojjscn.50.355
  • ISSN
    18847668
    00290831
  • Text Lang
    ja
  • Data Source
    • JaLC
    • CiNii Articles
  • Abstract License Flag
    Disallowed

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