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 journalArticlepeer-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 languageEnglish
Article number6
JournalHuman Genome Variation
Volume5
Issue number1
DOIs
Publication statusPublished - 01-12-2018
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

Fingerprint

Dive into the research topics of 'Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter'. Together they form a unique fingerprint.

Cite this