PDF(Pubmed)
Abstract：
UNASSIGNED: The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease.
UNASSIGNED: The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms. After presenting with a sudden choreic movement disorder, the neuroimaging investigation revealed an ischemic stroke, moyamoya disease, and bilateral incomplete hippocampal inversion. Chromosomal microarray analysis revealed a deletion of 13.2 Mb at 1p31.3p32.2, compatible with the contiguous gene syndrome caused by microdeletions of this region.
UNASSIGNED: This is the second report of a patient who developed Moyamoya disease and the first to describe bilateral incomplete hippocampal inversion in this microdeletion syndrome.
UNASSIGNED: The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms. After presenting with a sudden choreic movement disorder, the neuroimaging investigation revealed an ischemic stroke, moyamoya disease, and bilateral incomplete hippocampal inversion. Chromosomal microarray analysis revealed a deletion of 13.2 Mb at 1p31.3p32.2, compatible with the contiguous gene syndrome caused by microdeletions of this region.
UNASSIGNED: This is the second report of a patient who developed Moyamoya disease and the first to describe bilateral incomplete hippocampal inversion in this microdeletion syndrome.
摘要：
■染色体1p32p31缺失综合征是一种连续的基因疾病，具有可变的表型，其特征是有或没有尿路缺陷的脑畸形，除了神经发育迟缓和畸形。基于其他发现提出了扩展的表型，包括以前的一份关于烟雾病患者的报告。
■作者报告了一位患有早期神经发育迟缓的患者，脑积水,肾畸形,和畸形。在出现突然的舞蹈运动障碍后，神经影像学检查显示缺血性中风，烟雾病,双侧不完全海马倒置。染色体微阵列分析显示，在1p31.3p32.2处缺失13.2Mb，与该区域微缺失引起的连续基因综合征相容。
■这是一例发展为烟雾病的患者的第二份报告，也是第一次描述这种微缺失综合征中的双侧海马不完全倒置。
■作者报告了一位患有早期神经发育迟缓的患者，脑积水,肾畸形,和畸形。在出现突然的舞蹈运动障碍后，神经影像学检查显示缺血性中风，烟雾病,双侧不完全海马倒置。染色体微阵列分析显示，在1p31.3p32.2处缺失13.2Mb，与该区域微缺失引起的连续基因综合征相容。
■这是一例发展为烟雾病的患者的第二份报告，也是第一次描述这种微缺失综合征中的双侧海马不完全倒置。
