Kong Xiangdong, Zhang Tianyuan, Bai Zhouxian, Su Lisha, Wang Li
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1127-1129. doi: 10.3760/cma.j.issn.1003-9406.2019.11.018.
To analyze a family with recurrent fetal copy number variations (microdeletion and microduplication, respectively) of 1p31.1 using single nucleotide polymorphism-based array (SNP-array) and G banding chromosomal karyotyping.
Amniocentesis and chorionic villus sampling were performed for a woman during the two pregnancies. Whole genome SNP-array was used to detect genomic imbalance of the fetus. The couple was also subjected to G-banding chromosomal analysis and SNP-array analysis.
SNP-array showed a 1p31.1 (70 164 686-83 474 843) ×1 and a 1p31.1 (70 164 686-83 479 747) ×3 in the fetuses during the two pregnancies, respectively. SNP array results of the couple appeared to be normal. The mother of the fetuses had a 46,XX,inv(1)(p31.1p32.1) karyotype.
The paracentric inversion in chromosome 1 in the gravida probably underlies the recurrent 1p31.1 copy number variations in the fetuses. SNP-array combined with G banding chromosomal analysis are suitable for prenatal diagnosis for recurrent microdeletion and microduplication in the same chromosomal region, and can provide detailed information for genetic counseling.
使用单核苷酸多态性阵列（SNP-array）和G显带染色体核型分析，分析一个胎儿反复出现1p31.1拷贝数变异（分别为微缺失和微重复）的家系。
对一名女性在两次妊娠期间进行了羊水穿刺和绒毛取样。使用全基因组SNP-array检测胎儿的基因组失衡情况。这对夫妇也接受了G显带染色体分析和SNP-array分析。
SNP-array显示，两次妊娠期间胎儿的1p31.1（70 164 686-83 474 843）分别为单倍体和1p31.1（70 164 686-83 479 747）为三倍体。这对夫妇的SNP阵列结果似乎正常。胎儿的母亲核型为46,XX,inv(1)(p31.1p32.1)。
孕妇1号染色体的臂间倒位可能是胎儿反复出现1p31.1拷贝数变异的原因。SNP-array结合G显带染色体分析适用于同一染色体区域反复出现的微缺失和微重复的产前诊断，并可为遗传咨询提供详细信息。
