视网膜母细胞瘤的染色体核型。病例报告及文献综述。
Constitutional karyotype in retinoblastoma. Case report and review of literature.
作者信息
Munier F, Pescia G, Jotterand-Bellomo M, Balmer A, Gailloud C, Thonney F
机构信息
University Eye Hospital, Lausanne, Switzerland.
出版信息
Ophthalmic Paediatr Genet. 1989 Jun;10(2):129-50. doi: 10.3109/13816818909088353.
PMID:2674826
Abstract
High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.
摘要
对13例视网膜母细胞瘤患者进行了高分辨率核型分析。在一名患有散发性双侧视网膜母细胞瘤和面部中部发育异常的女孩中发现了del(13)(q14.1;q14.3)的嵌合模式。此外，回顾了162例13q畸变病例，包括140例视网膜母细胞瘤患者和22例13q14缺失的非外显病例。讨论了一些流行病学和遗传学方面的情况。
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