Suppr超能文献

21三体综合征作为肝母细胞瘤唯一的染色体异常。 (备注:原文中Trisomy 2 应指21三体综合征,英文表述有误,实际应为Trisomy 21 )

Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma.

作者信息

Bardi G, Johansson B, Pandis N, Heim S, Mandahl N, Békássy A, Hägerstrand I, Mitelman F

机构信息

Department of Clinical Genetics, University Hospital, Sweden.

出版信息

Genes Chromosomes Cancer. 1992 Jan;4(1):78-80. doi: 10.1002/gcc.2870040111.

Abstract

Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.

摘要

对肝母细胞瘤细针穿刺抽吸物进行了短期培养,并进行了细胞遗传学分析。发现21三体是唯一的异常,产生的核型为47,XY,+2/46,XY。因为迄今为止报道的11例肝母细胞瘤中有7例描述了全部或部分2号染色体三体,尽管同时伴有其他畸变,所以本病例中+2作为唯一异常的发现强烈表明额外的2号染色体物质在这种肿瘤类型中具有致病意义。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验