PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

Maki Kato, Takema Kato, Eriko Hosoba, Masanao Ohashi, Midori Fujisaki, Mamoru Ozaki, Masatoshi Yamaguchi, Hiroshi Sameshima, Hiroki Kurahashi

研究成果: Article査読

4 被引用数 (Scopus)

抄録

We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.

本文言語English
論文番号17021
ジャーナルHuman Genome Variation
4
DOI
出版ステータスPublished - 08-06-2017

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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