一些患有塞克尔综合征的患者是否存在血液学问题和/或染色体断裂？
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
作者信息
Butler M G, Hall B D, Maclean R N, Lozzio C B
出版信息
Am J Med Genet. 1987 Jul;27(3):645-9. doi: 10.1002/ajmg.1320270318.
Abstract
We report on a 12-yr-old female and a 14-yr-old male with Seckel syndrome. The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability. Chromosome breakage analysis of both of our patients also indicated chromosome instability. We suggest that there may be a subgroup of Seckel syndrome patients with chromosome instability and/or hematological problems.
摘要
我们报告了一名12岁女性和一名14岁男性患有塞克尔综合征。这名12岁女性患有全血细胞减少症，这在塞克尔综合征患者中偶尔可见，也是范科尼贫血的一个特征，范科尼贫血是一种公认的常染色体隐性侏儒症综合征，伴有染色体不稳定。我们两名患者的染色体断裂分析也表明存在染色体不稳定。我们认为可能存在一部分患有染色体不稳定和/或血液学问题的塞克尔综合征患者。
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Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?一些患有塞克尔综合征的患者是否存在血液学问题和/或染色体断裂？
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