Partial Deletion of LIS1: A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome

Kosuke Izumi, Gen Kuratsuji, Kazushige Ikeda, Takao Takahashi, Kenjiro Kosaki

研究成果: Article査読

5 被引用数 (Scopus)

抄録

Miller-Dieker syndrome represents a microdeletion syndrome spanning the LIS1 locus at 17p13.3, the deletion of which leads to lissencephaly. A fluorescence in situ hybridization study using an LIS1 probe is considered the standard laboratory diagnostic method for Miller-Dieker syndrome. This report documents a Miller-Dieker syndrome patient who tested normal when a commercially available LIS1 fluorescence in situ hybridization study probe was used but was later demonstrated to have a partial deletion of the LIS1 locus. The present case exemplifies a major shortcoming of commercially available fluorescence in situ hybridization studies for the diagnosis of microdeletion syndromes such as Miller-Dieker syndrome: that is, relatively small deletion can potentially remain undetected.

本文言語English
ページ(範囲)258-260
ページ数3
ジャーナルPediatric Neurology
36
4
DOI
出版ステータスPublished - 2007 4

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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