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

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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

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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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, 5(1), [6]. https://doi.org/10.1038/s41439-018-0008-8