Wu Dong, Shi Weili, Wang Hongdan, Hou Qiaofang, Zhang Hui, Li Tao, Zhang Chaoyang, Yang Yanli, Liao Shixiu
Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):718-721. doi: 10.3760/cma.j.issn.1003-9406.2017.05.022.
To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism.
The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).
No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus. The region involves candidate genes responsible for structural brain abnormalities. The area flanking the chromosomal breakpoint contains a 2410 bp sequence rich in palindromes which can form stable secondary structures.
The de novo 6q27 deletion is pathogenic. The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion.
确定胎儿染色体畸变的起源和致病性，并分析其可能机制。
采用常规G显带技术分析胎儿及其父母的核型。同时运用阵列比较基因组杂交技术（aCGH）对其基因组DNA进行分析。
在细胞遗传学水平上，未检测到胎儿及其父母的核型异常。aCGH检测发现胎儿6q27区域存在一个2.04 Mb的新发缺失。该区域涉及与脑结构异常相关的候选基因。染色体断点侧翼区域包含一段富含回文序列的2410 bp序列，可形成稳定的二级结构。
6q27新发缺失具有致病性。6q27缺失可能是胎儿脑结构异常的原因。染色体断点侧翼的回文序列可能与6q27缺失的形成有关。
