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KMID : 1100820160060030183
Laboratory Medicine Online
2016 Volume.6 No. 3 p.183 ~ p.186
A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia
Lim Hyeon-Ho

Choi Jae-Lim
Kim Bo-Ram
Woo Kwang-Sook
Kim Kyeong-Hee
Kim Jung-Man
Kim Sung-Hyun
Han Jin-Yeong
Abstract
Among hematologic diseases, structural abnormalities of autosomal chromosomes are well-known, but cases involving the sex chromosomes are uncommon. Duplications of the long arm of chromosome 1 have been reported in several hematologic diseases including myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia, and Burkitt lymphoma. However, dup(1q) as a der(Y)t(Y;1)(q12;q12) is very rare. Here, we report a case of essential thrombocythemia harboring der(Y)t(Y;1)(q12;q12) with literature review.
KEYWORD
Essential thrombocythemia, der(Y)t(Y, 1)(q12, q12), dup(1q), Chromosomal abnormality
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