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

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 - 01-03-2019

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Jacobsen Distal 11q Deletion Syndrome
Uniparental Disomy
X Chromosome Inactivation
Mosaicism
Cytogenetic Analysis
Microarray Analysis
Karyotype
Embryonic Development

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy",
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.",
author = "Miki Kawai and Makiko Tsutsumi and Fumihiko Suzuki and Kiyoko Sameshima and Yuri Dowa and Takuji Kyoya and Hidehito Inagaki and Hiroki Kurahashi",
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Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy. / Kawai, Miki; Tsutsumi, Makiko; Suzuki, Fumihiko; Sameshima, Kiyoko; Dowa, Yuri; Kyoya, Takuji; Inagaki, Hidehito; Kurahashi, Hiroki.

In: European Journal of Medical Genetics, Vol. 62, No. 3, 01.03.2019, p. 224-228.

Research output: Contribution to journalArticle

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T1 - Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy

AU - Kawai, Miki

AU - Tsutsumi, Makiko

AU - Suzuki, Fumihiko

AU - Sameshima, Kiyoko

AU - Dowa, Yuri

AU - Kyoya, Takuji

AU - Inagaki, Hidehito

AU - Kurahashi, Hiroki

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AB - 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.

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