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首页> 外文期刊>American Journal of Neuroradiology >Cerebral White Matter Abnormalities in 6p25 Deletion Syndrome
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Cerebral White Matter Abnormalities in 6p25 Deletion Syndrome

机译:6p25缺失综合征中的脑白质异常。

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摘要

Summary: Submicroscopic deletion of the terminal part of the short arm of chromosome 6, including 6p25, leads to developmental retardation, hearing impairment, ocular dysgenesis, and dysmorphic features. We diagnosed 3 patients referred because of white matter abnormalities of unknown origin. MR imaging showed multifocal areas of abnormal signal and enlarged perivascular spaces in the cerebral white matter that were stable during follow-up. Multifocal white matter abnormalities are most commonly seen in static, nonmetabolic encephalopathies, including chromosomal abnormalities.
机译:摘要:亚显微删除6号染色体的 短臂末端部分,包括6p25,导致发育性 发育迟缓,听力障碍,眼发育不全和畸形的 < / sup>功能。我们诊断出3例因来源不明的白色 异常而转诊的患者。 MR成像显示在随访期间稳定的 信号异常多灶区域和 脑白质的血管周围间隙扩大。 多灶白质异常在静态,非代谢性脑病中最常见的是 ,包括染色体 异常。

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  • 来源
    《American Journal of Neuroradiology》 |2006年第3期|00000586-00000588|共3页
  • 作者单位

    Department of Child Neurologythe Clinical Cytogenetics LaboratoryVU University Medical Center, Amsterdam, The Netherlands;

    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;

    Department of Neurology, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;

    Clinical Cytogenetics Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;

    Department of Clinical and Human GeneticsVU University Medical Center, Amsterdam, The Netherlands;

    Department of Pediatrics, Groene Hart HospitalGouda, The Netherlands;

    Department of Pediatrics, Meander Medical Center, Amersfoort, The Netherlands;

    Department of RadiologyVU University Medical Center, Amsterdam, The Netherlands;

    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;

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