Analysis of a family with recurrent fetal copy number variations in 1p31.1
10.3760/cma.j.issn.1003-9406.2019.11.018
- VernacularTitle: 连续两次发生胎儿1p31.1区拷贝数异常一家系
- Author:
Xiangdong KONG
1
;
Tianyuan ZHANG
;
Zhouxian BAI
;
Lisha SU
;
Li WANG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
- Publication Type:Clinical Trail
- Keywords:
Copy number variation of 1p31.1 region;
Chromosomal inversion;
Single nucleotide polymorphism array;
G banding chromosomal analysis
- From:
Chinese Journal of Medical Genetics
2019;36(11):1127-1129
- CountryChina
- Language:Chinese
-
Abstract:
Objective: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.
Methods: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.
Results: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.
Conclusion: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.
