%0 Journal Article
%T Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0008-8
%X 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
%U https://www.nature.com/articles/s41439-018-0008-8