Transient myeloproliferative disorder with partial trisomy 21 | Zendy

Takahashi Takahide | Zendy; Inoue Akira | Zendy; Yoshimoto Junko | Zendy; Kanamitsu Kiichiro | Zendy; Taki Tomohiko | Zendy; Imada Masahide | Zendy; Yamada Mutsuko | Zendy; Ninomiya Shinsuke | Zendy; Toki Tsutomu | Zendy; Terui Kiminori | Zendy; Ito Etsuro | Zendy; Shimada Akira | Zendy

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Transient myeloproliferative disorder with partial trisomy 21

Author(s) -

Takahashi Takahide,

Inoue Akira,

Yoshimoto Junko,

Kanamitsu Kiichiro,

Taki Tomohiko,

Imada Masahide,

Yamada Mutsuko,

Ninomiya Shinsuke,

Toki Tsutomu,

Terui Kiminori,

Ito Etsuro,

Shimada Akira

Publication year - 2015

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.25624

Subject(s) - gata1 , trisomy , down syndrome , chromosome 21 , medicine , chromosomal translocation , runx1 , genetics , snp array , gene , cancer research , chromosome , biology , genotype , single nucleotide polymorphism , gene expression , transcription factor

Myeloid malignancy with Down syndrome (ML‐DS) is estimated to have a step‐wise leukemogenesis including GATA1 mutation. Trisomy 21 is essential for ML‐DS; however, we do not know exactly which gene or genes located on chromosome 21 are necessary for the ML‐DS. We report a female infant with transient myeloproliferative disorder (TMD) and partial trisomy 21. SNP array analysis showed 10 Mb amplification of 21q22.12–21q22.3, which included DYRK1A , ERG , and ETS but not the RUNX1 gene. With two other reported TMD cases having partial trisomy 21, DYRK1A , ERG , and ETS were the most likely genes involved in collaboration with the GATA1 mutation. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.

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