Department of Obstetrics, Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, PR China.
J Int Med Res. 2024 Aug;52(8):3000605241271837. doi: 10.1177/03000605241271837.
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 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.
拷贝数变异 (CNVs) 是正常和致病基因组变异的一个重要来源。非平衡染色体异常是指大的基因组区域的获得或丢失，这些区域不会或仅最小程度地影响个体的临床状况。非侵入性产前检测 (NIPT) 广泛用于常见胎儿染色体非整倍体的筛查。一个例子是 10q11.21q11.23 的重复，其中包括 10q11.2 区域。该区域包含一组复杂的低拷贝重复序列，可能通过非等位基因同源重组导致各种基因组改变。在本报告中，我们介绍了一例表型正常的 10q11.21q11.23 重复。该病例可能有助于产前诊断和遗传咨询。NIPT、产前超声、核型分析、拷贝数变异测序和遗传咨询的结合有助于 CNV 的产前诊断。
