Sasaki K, Yoshimoto T, Nakao T, Minagawa K, Takahashi Y, Watanabe Y, Tanabe C
Department of Pediatrics, Sapporo Ayumi-no-Sono.
No To Hattatsu. 2000 Jan;32(1):49-55.
We reported a boy with nevoid basal cell carcinoma syndrome (NBCCS) with chromosomal aberration. He showed multiple jaw cysts, basal cell carcinomas, hypertelorism, macrocephaly and mental retardation. Cranial CT revealed calcification of the falx cerebri and tentorium cerebelli, and dilatation of the lateral ventricles. MRI showed a thin corpus callosum. A chromosomal study revealed a deletion of 9q21.31-q22.31. He had generalized tonic-clonic seizures, which were well controlled. Since the gene for NBCCS was recently mapped to chromosome 9q22.3, we suspected that the deletion site in this patient was responsible for his symptoms of NBCCS.
我们报告了一名患有痣样基底细胞癌综合征（NBCCS）并伴有染色体畸变的男孩。他表现出多发颌骨囊肿、基底细胞癌、眼距过宽、巨头畸形和智力发育迟缓。头颅CT显示大脑镰和小脑幕钙化，以及侧脑室扩张。MRI显示胼胝体薄。染色体研究显示9q21.31-q22.31缺失。他有全身性强直阵挛发作，但得到了很好的控制。由于NBCCS基因最近被定位到9q22.3染色体，我们怀疑该患者的缺失位点导致了他的NBCCS症状。
