Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy

Miki Kawai, Makiko Tsutsumi, Fumihiko Suzuki, Kiyoko Sameshima, Yuri Dowa, Takuji Kyoya, Hidehito Inagaki, Hiroki Kurahashi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy encompassing the deleted region found in the two siblings. The pattern of X chromosome inactivation was almost completely skewed in the mother. These data suggested that the mother was a carrier of the 11q23.3-qter deletion but that this had been rescued by disomy formation during early embryogenesis except for her germinal cells.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume62
Issue number3
DOIs
Publication statusPublished - 03-2019

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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