Three unusual but cytogenetically five different cell lines involving abnormalities of chromosome 18
Three unusual but cytogenetically five different cell lines involving abnormalities of chromosome 18
复制标题
DOI：
10.1369/jhc.7a7244.2007
复制
发表时间：
2007-11-01
影响因子：
3.2
通讯作者：
Liehr, Thomas
中科院分区：
文献类型：
--
作者：
Carreira, Isabel M.;Mascarenhas, Alexandra;Liehr, Thomas
我们报告两例产前和两例产后诊断为GTG显带后环状染色体的病例（后者为单卵双胞胎）。在应用高分辨率分子细胞遗传学技术，如荧光原位杂交、着丝粒探针、荧光显带和18号染色体位点特异性探针后，所有4例新发病例都变得更加复杂。所有四个病例都是涉及多达五种不同细胞系的18号染色体的嵌合体，包括46，r（18）; 46，dr（18）; 47，r（18）x2; 46，mar（18）;和45，-18。镶嵌共享的数字和结构异常是罕见的，但环往往出现镶嵌由于其有丝分裂的不稳定性。总的来说，18号环状染色体的患者通常具有18 q综合征的临床特征，而18 p综合征的临床特征较少。高分辨率的分子细胞遗传学技术是有用的，在动态镶嵌的情况下，并在建立之间的关系的损失或获得的染色体材料和表型的特点。
We report two prenatal and two postnatal diagnosed cases (the latter monozygotic twins) with ring chromosomes after GTG banding. All four, de novo r(18), cases turned out to be more complex after application of high-resolution molecular cytogenetics techniques such as use of fluorescence in situ hybridization, centromeric probes, multicolor banding, and locus-specific probes for chromosome 18. All four cases are mosaics involving chromosome 18 in up to five different cell lines, including 46,r(18); 46,dr(18); 47,r(18)x2; 46,mar(18); and 45,-18. Mosaicism sharing both numerical and structural anomalies is rare, but rings often appear as mosaics due to their mitotic instability. Overall, patients with ring chromosome 18 usually share clinical features of 18q- syndrome and, less frequently, those of 18p- syndrome. High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype.