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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

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

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. More... »

PAGES

6

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0008-8

DOI

http://dx.doi.org/10.1038/s41439-018-0008-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1104089167

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29796285


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