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首页> 外文期刊>The British journal of psychiatry : >Structural brain abnormalities associated with deletion at chromosome 22q11
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Structural brain abnormalities associated with deletion at chromosome 22q11

机译：与22q11号染色体缺失有关的结构性脑异常

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Background Velo-cardio-facial syndrome (VCFS) is associated with deletions in the qll band of chromosome 22, learning disability and psychosis, but the neurobiological basis is poorly understood. Aims To investigate brain anatomy in adults with VCFS. Method Magnetic resonance imaging was used to study 10 patients with VCFS and 13 matched controls. We carried out three analyses: qualitative; traced regional brain volume; and measurement of grey and white matter volume. Results The subjects with VCFS had: a high prevalence of white matter hyperintensities and abnormalities of the septum pellucidum; a significantly smaller volume of cerebellum; and widespread differences in white matter bilaterally and regional specific differences in grey matter in the left cerebellum, insula, and frontal and right temporal lobes. Conclusions Deletion at chromosome 22q11 is associated with brain abnormalities that are most likely neurodevelopmental and may partially explain the high prevalence of learning disability and psychiatric disorder in VCFS.
机译：背景心脏快速面部综合征（VCFS）与22号染色体qll带缺失，学习障碍和精神病有关，但人们对神经生物学的基础了解甚少。目的探讨成人VCFS的大脑解剖结构。方法采用磁共振成像技术对10例VCFS患者和13例匹配对照进行研究。我们进行了三项分析：定性分析;定性分析。追踪区域大脑体积;并测量灰白色物质的体积。结果VCFS患者有：白质高信号血症和透明中隔异常的高患病率;小脑体积明显较小;双边的白质差异很大，左小脑，岛状以及额叶和右颞叶的灰质区域差异也很大。结论22q11号染色体的缺失与大脑异常有关，后者最可能是神经发育，可能部分解释了VCFS中学习障碍和精神疾病的高患病率。

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