纯合性与非典型骨髓增殖综合征（作者译）
[Homozygosity and atypical myeloproliferative syndrome (author's transl)].
作者信息
Berger R, Brière J, Clauvel J P
出版信息
Nouv Rev Fr Hematol. 1975 Nov-Dec;15(6):667-76.
PMID:133336
Abstract
An abnormal clone with four chromosomal rearrangements was found in the bone marrow of a patient with an atypical myeloproliferative syndrome and with an almost exclusive polymorphonuclear hyperplasia in blood: t (4;12), i(17 q),20q--. An heterozygosity for a normal variant of one chromosome No. 3 was observed in blood cell cultures. In bone marrow however both chromosomes No. 3 had the same Q-banding patterns. A mechanism of somatic segregation may explain this partial homozygosity.
摘要
在一名患有非典型骨髓增殖综合征且血液中几乎全是多形核细胞增生的患者骨髓中，发现了一个具有四种染色体重排的异常克隆：t(4;12)、i(17q)、20q-。在血细胞培养物中观察到3号染色体正常变体的杂合性。然而，在骨髓中，两条3号染色体具有相同的Q带模式。体细胞分离机制可能解释这种部分纯合性。
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