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

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 constit...

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Autores principales: Morokawa, Hirokazu, Kamiya, Motoko, Wakui, Keiko, Kobayashi, Mikiko, Kurata, Takashi, Matsuda, Kazuyuki, Kawamura, Rie, Kanno, Hiroyuki, Fukushima, Yoshimitsu, Nakazawa, Yozo, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960645/
https://www.ncbi.nlm.nih.gov/pubmed/29796285
http://dx.doi.org/10.1038/s41439-018-0008-8
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author Morokawa, Hirokazu
Kamiya, Motoko
Wakui, Keiko
Kobayashi, Mikiko
Kurata, Takashi
Matsuda, Kazuyuki
Kawamura, Rie
Kanno, Hiroyuki
Fukushima, Yoshimitsu
Nakazawa, Yozo
Kosho, Tomoki
author_facet Morokawa, Hirokazu
Kamiya, Motoko
Wakui, Keiko
Kobayashi, Mikiko
Kurata, Takashi
Matsuda, Kazuyuki
Kawamura, Rie
Kanno, Hiroyuki
Fukushima, Yoshimitsu
Nakazawa, Yozo
Kosho, Tomoki
author_sort Morokawa, Hirokazu
collection PubMed
description 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.
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spelling pubmed-59606452018-05-24 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-05-21 /pmc/articles/PMC5960645/ /pubmed/29796285 http://dx.doi.org/10.1038/s41439-018-0008-8 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
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
title Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
title_full Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
title_fullStr Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
title_full_unstemmed Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
title_short Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
title_sort myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960645/
https://www.ncbi.nlm.nih.gov/pubmed/29796285
http://dx.doi.org/10.1038/s41439-018-0008-8
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