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

doi:10.1038/s41439-018-0008-8

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 journal › Article › peer-review

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 language	English
Article number	6
Journal	Human Genome Variation
Volume	5
Issue number	1
DOIs	https://doi.org/10.1038/s41439-018-0008-8
Publication status	Published - 01-12-2018
Externally published	Yes

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/s41439-018-0008-8

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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.",

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

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AU - Morokawa, Hirokazu

AU - Kamiya, Motoko

AU - Wakui, Keiko

AU - Kobayashi, Mikiko

AU - Kurata, Takashi

AU - Matsuda, Kazuyuki

AU - Kawamura, Rie

AU - Kanno, Hiroyuki

AU - Fukushima, Yoshimitsu

AU - Nakazawa, Yozo

AU - Kosho, Tomoki

PY - 2018/12/1

Y1 - 2018/12/1

N2 - 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.

AB - 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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JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

M1 - 6

ER -

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

Abstract

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