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目的 16号染色体长臂部分三体是罕见的临床综合征。文中报道1例骨软骨瘤患儿合并复杂平衡易位及16q24.1q24.3部分三体。方法对患儿进行外周血G-显带高分辨染色体核型分析,CytoScanTMHD芯片分析及多色荧光原位杂交检测。结果 G-高分辩显带技术发现患儿染色体复杂易位,包括1、5、12和13号4条染色体,患儿母亲也携带相同的复杂易位;CytoScanTMHD芯片检测显示16 q24.1 q24.3区域4.4 Mb的重复,包括64个注释基因,而患儿的父母亲均未发现重复。多色荧光原位杂交检测显示复杂染色体易位,易位涉及1、5、12和13号4条染色体和6个断点,即1p33,5q34,5q31.3,12q24.1,12q15和13q22。除此之外,还发现1条新发生的衍生17号染色体,导致16 q24.1 q24.3区域4.4 Mb的重复。结论 16 q24.1 q24.3区域的重复可能是导致患儿表型的原因。
The purpose of chromosome 16 long arm part trisomy is a rare clinical syndrome. In this paper, a case of osteochondroma combined with complex balance translocation and 16q24.1q24.3 partial trisomy. Methods Peripheral blood G-banding high-resolution chromosome karyotype analysis, CytoScanTMHD chip analysis and multi-color fluorescence in situ hybridization detection. Results The G-high resolution banding technique found that children with complex chromosomal translocations, including 4 chromosomes 1, 5, 12 and 13, also had the same complex translocation in their mothers. CytoScanTMHD chip detection showed 16 q24.1 q24. The 4.4 Mb repeat in Region 3, including 64 annotated genes, was not found in any of the parents. Multi-color fluorescence in situ hybridization showed complex chromosomal translocations involving 4 chromosomes 1, 5, 12 and 13 and 6 breakpoints, namely 1p33, 5q34, 5q31.3, 12q24.1, 12q15 and 13q22. In addition, a newly occurring derivative of chromosome 17 was found, resulting in a 4.4 Mb duplication of the 16 q24.1 q24.3 region. Conclusion The duplication of q24.1 q24.3 region may be responsible for the phenotype in children.