TY - JOUR
T1 - Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
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
N1 - Publisher Copyright:
© 2018 The Author(s).
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.
UR - https://www.scopus.com/pages/publications/85069293854
UR - https://www.scopus.com/pages/publications/85069293854#tab=citedBy
U2 - 10.1038/s41439-018-0008-8
DO - 10.1038/s41439-018-0008-8
M3 - Article
AN - SCOPUS:85069293854
SN - 2054-345X
VL - 5
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 6
ER -