Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter

Hirokazu Morokawa, Motoko Kamiya, Keiko Wakui, Mikiko Kobayashi, Takashi Kurata, Kazuyuki Matsuda, Rie Kawamura, Hiroyuki Kanno, Yoshimitsu Fukushima, Yozo Nakazawa, Tomoki Kosho

研究成果: Article

抄録

We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constitutional pure duplication 1q41-qter include developmental delay, craniofacial characteristics, foot malformation, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown.

元の言語English
記事番号6
ジャーナルHuman Genome Variation
5
発行部数1
DOI
出版物ステータスPublished - 01-12-2018

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Myelodysplastic Syndromes
Microarrays
Genes
Association reactions
Hypertrichosis
Gene Duplication
Respiratory Insufficiency
Foot

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

これを引用

Morokawa, H., Kamiya, M., Wakui, K., Kobayashi, M., Kurata, T., Matsuda, K., ... Kosho, T. (2018). Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter. Human Genome Variation, 5(1), [6]. https://doi.org/10.1038/s41439-018-0008-8
Morokawa, Hirokazu ; Kamiya, Motoko ; Wakui, Keiko ; Kobayashi, Mikiko ; Kurata, Takashi ; Matsuda, Kazuyuki ; Kawamura, Rie ; Kanno, Hiroyuki ; Fukushima, Yoshimitsu ; Nakazawa, Yozo ; Kosho, Tomoki. / Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter. :: Human Genome Variation. 2018 ; 巻 5, 番号 1.
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Morokawa, H, Kamiya, M, Wakui, K, Kobayashi, M, Kurata, T, Matsuda, K, Kawamura, R, Kanno, H, Fukushima, Y, Nakazawa, Y & Kosho, T 2018, 'Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter', Human Genome Variation, 巻. 5, 番号 1, 6. https://doi.org/10.1038/s41439-018-0008-8

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter. / Morokawa, Hirokazu; Kamiya, Motoko; Wakui, Keiko; Kobayashi, Mikiko; Kurata, Takashi; Matsuda, Kazuyuki; Kawamura, Rie; Kanno, Hiroyuki; Fukushima, Yoshimitsu; Nakazawa, Yozo; Kosho, Tomoki.

:: Human Genome Variation, 巻 5, 番号 1, 6, 01.12.2018.

研究成果: Article

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AU - Matsuda, Kazuyuki

AU - Kawamura, Rie

AU - Kanno, Hiroyuki

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AU - Nakazawa, Yozo

AU - Kosho, Tomoki

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Morokawa H, Kamiya M, Wakui K, Kobayashi M, Kurata T, Matsuda K その他. Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter. Human Genome Variation. 2018 12 1;5(1). 6. https://doi.org/10.1038/s41439-018-0008-8