Sugio Y, Sugio Y, Kuwano A, Miyoshi O, Yamada K, Niikawa N, Tsukahara M
Department of Pediatrics, Ogori Dai-ichi General Hospital, Yamaguchi, Japan.
Am J Med Genet. 1998 Sep 23;79(3):191-4. doi: 10.1002/(sici)1096-8628(19980923)79:3<191::aid-ajmg7>3.0.co;2-q.
A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 microg/dl) and ceruloplasmin (9 mg/dl) levels were extremely low. Fluorescent in situ hybridization analysis with a 100-kb P1-derived artificial chromosome probe containing the Menkes disease gene demonstrated three twin-signals, one on the normal X chromosome and one each on derivative chromosomes X and 21, indicating that the Xq13.3 breakpoint was located within the gene. Replication pattern analysis showed that the normal X chromosome was late replicating, whereas the derivative X chromosome was selectively early replicating. These results indicated that Menkes disease in our patient resulted from a de novo translocation that disrupts the disease gene.
一名核型为46,X,t(X;21)(q13.3;p11.1)的女孩表现出皮肤冗余，尤其是颈部，枕部突出和小颌畸形，随后出现肌张力减退、色素减退、头皮毛发稀疏以及门克斯病特有的严重智力迟钝。她的血清铜（14微克/分升）和铜蓝蛋白（9毫克/分升）水平极低。用包含门克斯病基因的100千碱基P1衍生人工染色体探针进行荧光原位杂交分析显示有三个双信号，一个在正常X染色体上，另一个分别在衍生染色体X和21上，表明Xq13.3断点位于该基因内。复制模式分析表明正常X染色体复制延迟，而衍生X染色体选择性地早期复制。这些结果表明我们患者的门克斯病是由破坏疾病基因的新生易位所致。
