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Report of the Family with Fanconi Anemia and Ataxia-Telangiectasia

机译：与美女贫血和共济失调的报告

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We diagnosed two boys with two different chromosomal instability disorders such as Fanconi anemia (FA) and ataxia-telangiectasia (AT) in the same family.The phenotype of first sibling supports the diagnosis of ataxia-telangiectasia. He had ataxia, telangiectasias on bulbar conjunktivas, a high level of alpha-fetoprotein, low levels of Ig A and Ig E, and a defective cell-mediated immunity. Cytogenetic studies of the peripheral lymphocytes releaved a chromosomal sensitivity to ionizing radiation. His 8-year-old brother had pancytopenia but had no ataxia and telangiectasia. He had a normal level of immunoglobulins and alpha-fetoprotein. His cell-mediated immunity was also normal. Cytogenetic studies showed no evidence spontaneus chromosome aberrations; however, there were a mild increase in the rate of diepoxybutane (DEB) and also an increased chromosome aberrations in the mitomycin C (MMC) treated samples than the control. The parent of boys and 5~(th) child were healty. The first child had a normal hematological and hn-munological features, but he had a mild increase in the rate of DEB. The 4~(th) child had an increased rate of DEB-induced chromosome aberrations.
机译：我们诊断出两个具有两种不同染色体不稳定疾病的男孩，如同一个家庭的FANCONI贫血（FA）和Ataxia-Telanciectasia（AT）。第一兄弟的表型支持诊断Ataxia-Telanciectasia。他在凸形菌肌腱血管症均匀，高水平的α-胎蛋白，低水平的Ig A和Ig E，以及缺陷的细胞介导的免疫。外周血淋巴细胞的细胞遗传学研究重组了对电离辐射的染色体敏感性。他8岁的兄弟患有PancyTopenia，但没有共济失调和Telangiectasia。他具有正常的免疫球蛋白和α-胎蛋白水平。他的细胞介导的免疫也正常。细胞遗传学研究显示没有证据染色体染色体畸变;然而，Diepoxybutane（DEB）的速率增加了轻度增加，并且在丝霉素C（MMC）处理的样品中也增加了染色体畸变比对照。男孩和5〜（th）孩子的父母是健康的。第一个孩子有正常的血液学和恒生大学特征，但他对DEB的速度感到轻微增加。 4〜（Th）儿童增加了染色体染色体畸变率增加。

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