Nakayama J, Hamano K, Shimakura Y, Iwasaki N, Nakahara C, Imoto N, Kobayashi K, Arinami T, Hamaguchi H
Department of Pediatrics, University of Tsukuba, Japan.
Neuropediatrics. 1997 Dec;28(6):335-7. doi: 10.1055/s-2007-973727.
We describe a Japanese boy with ring chromosome 18 in whom abnormal myelination was observed on magnetic resonance imaging. Cytogenetic investigation revealed 46, XY, r(18) (p11.2 q21.33). T2-weighted magnetic resonance imaging scan of the brain demonstrated high signal intensity consistent with abnormal myelination. Microsatellite marker analysis of DNA demonstrated only one copy of the myelin basic protein gene, derived from the mother. The present case indicates that a hemizygous state for the myelin protein gene may be related to the abnormal myelination.
我们描述了一名患有18号环状染色体的日本男孩，其在磁共振成像中观察到髓鞘形成异常。细胞遗传学检查显示为46, XY, r(18) (p11.2 q21.33)。脑部的T2加权磁共振成像扫描显示高信号强度，与髓鞘形成异常一致。DNA的微卫星标记分析显示髓鞘碱性蛋白基因只有一个拷贝，来自母亲。本病例表明髓鞘蛋白基因的半合子状态可能与髓鞘形成异常有关。
