Post-zygotic origin of isochromosome 12p
Post-zygotic origin of isochromosome 12p
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DOI：
10.1002/pd.956
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发表时间：
2004-12-15
影响因子：
3
通讯作者：
Vermeesch, JR
中科院分区：
文献类型：
--
作者：
de Ravel, TJL;Keymolen, K;Vermeesch, JR
目的探讨胎儿等染色体形成的机制。G-和/或T-显带染色体和FISH分析使用染色体12 p亚端粒探针对短期和长期CVS培养物，巨噬细胞和胎儿成纤维细胞。结果短期CVS培养显示46，XX核型，而长期CVS培养显示47，XX，+12核型。荧光原位杂交显示2、3、4个信号。胎儿成纤维细胞显示47，XX，+12和47，XX，+i（12）（p10）核型。DNA分析显示，该等染色体为父系来源，而胎儿的另外两条12号染色体为母系来源，部分为异二体性，部分为等二体性。结论胎儿的细胞遗传学和DNA组成表明，12号染色体为父系来源，提示Pallister-Killian综合征的12号染色体是合子后形成的。版权所有（C）2004约翰威利父子有限公司。
Objective Advance knowledge about the mechanism of isochromosome formation.Methods Echographic examination of the foetus. G- and/or T-banded chromosome and FISH analysis using chromosome 12p subtelomeric probes on short- and long-term CVS cultures, amniocytes and foetal fibroblasts. Polymorphic CA repeat analysis on DNA from the foetus and both parents.Results Short-term CVS cultures showed a 46,XX karyotype, whilst long-term CVS cultures showed a 47,XX,+12 karyotype. FISH on amniocytes indicated 2, 3 and 4 signals. Foetal fibroblasts showed both 47,XX,+12 and 47,XX,+i(12)(p10) karyotypes. DNA analysis revealed the isochromosome to be paternal in origin, whilst the other two foetal chromosomes 12 were maternal, part iso- and part heterodisomy.Conclusion The cytogenetic and DNA constitution of the foetus indicated the isochromosome 12p to be of paternal origin, and implied post-zygotic formation of the isochromosome 12p in the Pallister-Killian syndrome. Copyright (C) 2004 John Wiley Sons, Ltd.