16q部分三体患儿合并骨软骨瘤的报道分析  

Partial trisomy 16q with osteochondroma in a boy

作　　者：周洋[1] 姚琪[2] 高洪柳[1] 高德玉[1] 梁泉[3] 夏欣一[1] 王卫萍[1] 李晓军[1] 崔英霞[1] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究,南京210002 [2]南京军区南京总医院医学生殖中心,南京210002 [3]南京军区南京总医院医学影像科,南京210002

出　　处：《医学研究生学报》2013年第11期1161-1164,共4页Journal of Medical Postgraduates

基　　金：国家自然科学基金(30901652)

摘　　要：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。Objective Partial trisomy 16q is a rare syndrome with a wide range of manifestations. We report on a boy patient with osteochondroma complicated by balanced complex chromosome rearrangement, resulting in duplication of the 16q4. 1 q4.3 re- gion. Methods For the 5-year old boy, we performed G-banded high resolution chromosome karyotype analysis of the peripheral blood, CytoScanTM HD array and M-FISH. Results G-banded high resolution chromosome analysis showed a complex rearrangement involving chromosomes 1, 5, 12 and 13, and the same was the case of the patient＇s phenotypically normal mother. CytoScanTMHD ar- ray exhibited an approximately 4.4Mb duplication of the 16q4.1q4.3 region involving 64 annotated genes, which was not found in his parents. M-FISH revealed a complex rearrangement of the derivative chromosomes 1, 5, 12 and 13 with 6 breakpoints at lp33, 5q31.3, 5q34, 12q15, 12q24.1 and 13q22. In addition, a de novo derivative chromosome 17 was found in the boy, resulting in the 4.4Mb duplication of the 16q24. lq24.3 region. Conclusion The duplication of the 16q4.1q4.3 region might contribute to the abnormal phenotype in the patient.

关 键 词：16号染色体长臂部分三体 复杂易位 骨软骨瘤 

分 类 号：R738.3[医药卫生—肿瘤]