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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Article number6
JournalHuman Genome Variation
Volume5
Issue number1
DOIs
Publication statusPublished - 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

Cite this

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. In: Human Genome Variation. 2018 ; Vol. 5, No. 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, vol. 5, no. 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.

In: Human Genome Variation, Vol. 5, No. 1, 6, 01.12.2018.

Research output: Contribution to journalArticle

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AU - Matsuda, Kazuyuki

AU - Kawamura, Rie

AU - Kanno, Hiroyuki

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AU - Kosho, Tomoki

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