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

Hum Genome Var. 2018 May 21:5:6. doi: 10.1038/s41439-018-0008-8. eCollection 2018.

Authors

Hirokazu Morokawa^#¹, Motoko Kamiya^#^{1

2}, Keiko Wakui^{2

3}, Mikiko Kobayashi⁴, Takashi Kurata¹, Kazuyuki Matsuda⁵, Rie Kawamura^{2

3}, Hiroyuki Kanno⁴, Yoshimitsu Fukushima^{2

3}, Yozo Nakazawa¹, Tomoki Kosho^{2

3}

Affiliations

¹ 1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
² 2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
³ 3Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
⁴ 4Department of Pathology, Shinshu University School of Medicine, Matsumoto, Japan.
⁵ 5Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.

^# Contributed equally.

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.

Publication types

Case Reports