Balarin M A, da Silva Lopes V L, Varella-Garcia M
Departamento de Ciências Biológicas, Faculdade de Medicina do Triángulo Mineiro, Uberaba, MG, Brasil.
Am J Med Genet. 1999 Jan 15;82(2):183-6.
We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the type IV alpha chain collagen gene, however, no known collagen-related gene is currently mapped to 17p11. Duplications involving 17p11.2 have been reported in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few sporadic patients with mental retardation and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus. Further studies may clarify the meaning of the association between Alport syndrome and duplications of DNA sequences mapped at 17p11.2.
我们描述了一名患有阿尔波特综合征、轻度智力障碍和轻微异常的男孩中出现的新发17p11重复。结合经典和分子细胞遗传学分析，核型被定义为46,XY。ish dup(17)(p11.2p11.2)(D17S29++,D17S379+)。阿尔波特综合征与IV型α链胶原蛋白基因突变有关，然而，目前尚无已知的胶原蛋白相关基因定位于17p11。涉及17p11.2的重复已在夏科-马里-图思病、德热里纳-索塔斯综合征以及少数患有智力障碍和轻微异常的散发性患者中报道，然而，在这些病例与先证者之间未发现明显的临床相似性。进一步的研究可能会阐明阿尔波特综合征与定位于17p11.2的DNA序列重复之间关联的意义。
