囊性部分分化型肾母细胞瘤中的超二倍体和12号染色体三体性
Hyperdiploidy and trisomy 12 in the cystic partially differentiated nephroblastoma.
作者信息
de Chadarévian J P, Punnett H H, Billmire D F, Tomczak E Z
机构信息
Department of Pathology (in Pediatrics), St. Christopher's Hospital for Children, Philadelphia, PA 19134-1095, USA.
出版信息
Hum Pathol. 1996 Sep;27(9):980-1. doi: 10.1016/s0046-8177(96)90228-2.
The karyotype of a cystic partially differentiated nephroblastoma (CPDN) was found to be 51, XY, +7, +8, +12, +13, +17. A review of the literature disclosed three other cytogenetically analyzed CPDNs. As in this case, they were all hyperdiploid. The only chromosomal anomaly common to all four cases was trisomy 12, suggesting this chromosome might have a pathogenetic role. Earlier reports had tentatively attributed this role to chromosome 8.
发现一例囊性部分分化型肾母细胞瘤（CPDN）的核型为51，XY，+7，+8，+12，+13，+17。文献回顾发现另外还有3例经细胞遗传学分析的CPDN。与本病例一样，它们均为超二倍体。所有4例共有的唯一染色体异常是12号染色体三体，提示该染色体可能具有致病作用。早期报告曾初步将此作用归因于8号染色体。
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