Donor-derived 47, XXY in an unrelated cord blood transplant recipient.
Donor-derived 47, XXY in an unrelated cord blood transplant recipient.
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DOI：
10.1186/2193-1801-3-72
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Okamura T
中科院分区：
文献类型：
--
作者：
Kawaguchi K;Nakamura T;Nohara M;Koteda S;Nomura K;Morishige S;Oku E;Imamura R;Mouri F;Seki R;Osaki K;Hashiguchi M;Yoshimoto K;Nagafuji K;Okamura T
一名65岁的日本男性治疗相关的骨髓增生异常综合征入院无关的脐带血移植。从日本脐带血库网络获得来自男性供体的脐带血单位。然后，患者接受由氟达拉滨、静脉内白消安和全身照射组成的预处理方案。成功植入。第28天的骨髓检查显示三系植入，通过可变数目串联重复聚合酶链反应的嵌合体分析证实了完全供体嵌合体。当时，骨髓穿刺的常规细胞遗传学显示20/20个中期分裂相具有Klinefelter综合征特征的47，XXY核型。Klinefelter综合征是人类男性不育症的最常见遗传原因，据报道在一般人群中的患病率为0.1-0.2%。在日本脐带血库网络中，没有父母对无关脐带血移植后患者评估可能揭示供体来源遗传性疾病（包括细胞遗传学异常）的可能性的知情同意。希望在日本有机会讨论父母是否会被告知无关脐带血移植后评估可能偶然发现供体源性疾病的可能性。
A 65-year-old Japanese male with therapy-related myelodysplastic syndrome was admitted for unrelated cord blood transplantation. A cord blood unit from a male donor was obtained from the Japan Cord Blood Bank Network. The patient then received a conditioning regimen consisting of fludarabine, intravenous busulfan, and total body irradiation. Successful engraftment was obtained. The bone marrow examination on day 28 revealed trilineage engraftment, and chimerism analysis by variable number of tandem repeat polymerase chain reaction confirmed complete donor chimerism. At that time, conventional cytogenetics of the bone marrow aspirate showed 20 out of 20 metaphases with the 47, XXY karyotype characteristic of Klinefelter syndrome. Klinefelter syndrome is the most common genetic cause of human male infertility with a reported prevalence of 0.1–0.2% in the general population. In Japan Cord Blood Bank Network, there is no informed consent from parents about the possibility that post-unrelated cord blood transplantation patient evaluation may reveal donor-origin inherited diseases including cytogenetic abnormality. It is desirable to have opportunities in Japan discussing whether parents will be notified of the possibility that post-unrelated cord blood transplantation evaluation may reveal donor-derived illness incidentally.
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影响因子：
9.8
作者：
Sugarman, J;Kurtzberg, J;Horner, RD
通讯作者：
Horner, RD
影响因子：
20.3
作者：
Greenberg, P;Cox, C;Bennett, J
通讯作者：
Bennett, J
影响因子：
12.8
作者：
GRAZE, P;SPARKES, R;GALE, RP
通讯作者：
GALE, RP
DOI：
10.1007/bf00320894
发表时间：
1986-10-01
期刊：
BLUT
影响因子：
--
作者：
BECHER, R;MAHMOUD, HK;SCHMIDT, CG
通讯作者：
SCHMIDT, CG
影响因子：
20.3
作者：
Takagi, Shinsuke;Ota, Yasunori;Taniguchi, Shuichi
通讯作者：
Taniguchi, Shuichi