Dong Yanling, Li Jian, Zeng Ziye, Zhang Xue, Liang Mingxin, Yi Hong, Luo Jianyun, Li Junnan
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Chongqing Medical University, No. 1, Youyi Road, Yuanjiagang, Yuzhong District, Chongqing, 400016, People's Republic of China.
Mol Cytogenet. 2022 Mar 5;15(1):9. doi: 10.1186/s13039-022-00586-1.
Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.
Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review.
Our study showed that the pathogenicity of the ring chromosome abnormality [r(6)(p25q27)] was mainly affected by chromosome imbalance, deletions of genes with haploinsufficiency, duplications of genes with triple sensitivity, parental inheritance of the imbalance and the imprinting status of the affected genes.
罕见的染色体结构异常，包括环状染色体，常常给临床遗传咨询带来挑战。
在此，我们报告一名患有先天性心脏病和发育迟缓的新生儿，其从表型正常的母亲那里遗传了环状6号染色体[46,XY,r(6)(p25q27)mat]。通过分子细胞遗传学分析、全外显子组测序及文献回顾对基因型和表型进行了分析。
我们的研究表明，环状染色体异常[r(6)(p25q27)]的致病性主要受染色体不平衡、单倍剂量不足基因的缺失、三倍敏感基因的重复、不平衡的亲代遗传以及受影响基因的印记状态影响。
