基因复制
拷贝数变化
遗传咨询
产前诊断
医学
染色体
遗传学
表型
非整倍体
基因组扫描
节段重复
基因检测
核型
基因组
等位基因
微卫星
生物
基因
胎儿
怀孕
基因家族
作者
Liu Ouyang,Yan Li,Fangfang Liu,Zeng Qin
标识
DOI:10.1177/03000605241271837
摘要
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities are either gains or losses of large genomic regions that do not or only minimally clinically affect the individual. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. One example is the duplication of 10q11.21q11.23, which includes the 10q11.2 region. This region contains a complex set of low-copy repeats that may lead to various genomic alterations through non-allelic homologous recombination. In this report, we present a case of a de novo 10q11.21q11.23 duplication with a normal phenotype. This case may be helpful for prenatal diagnosis and genetic counseling. A combination of NIPT, prenatal ultrasound, karyotype analysis, copy number variation sequencing, and genetic counseling is helpful for the prenatal diagnosis of CNVs.
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