Singh V, Boesel C P, Baker P
Department of Anatomic Pathology, Children's Hospital, Columbus, OH 43205, USA.
Clin Neuropathol. 2004 Jan-Feb;23(1):28-33.
The brain of an 1 8q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.
本文描述了一名18q缺失/3p三体患者的大脑。研究结果显示存在隔视发育不良、齿状核橄榄发育不良、髓鞘形成缺陷和神经元迁移紊乱。其中许多病理变化与先前在18q缺失中描述的结果重叠。了解这些个体大脑中的病理变化为其症状的治疗管理提供了依据。
