双侧视网膜母细胞瘤伴13号染色体长臂嵌合体。可能为生殖细胞突变的表现。
Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation.
作者信息
Ribeiro M C, Andrade J A, Erwenne C M, Brunoni D
机构信息
Disciplina de Genética da Escola Paulista de Medicina, São Paulo, Brazil.
出版信息
Cancer Genet Cytogenet. 1988 Jun;32(2):169-75. doi: 10.1016/0165-4608(88)90279-8.
PMID:3365680
Abstract
Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation.
摘要
采用G显带和R显带技术对15例视网膜母细胞瘤患者进行了细胞遗传学研究。1例患者显示13号染色体长臂嵌合体。提示嵌合病例和肿瘤细胞中的合子后缺陷可能继发于生殖细胞突变。
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