Prenatal detection of chromosome 7q deletion with duplication and literature review

Abstract

Abstract Background Genetic analysis was performed on a fetus with partial deletion and duplication of 7q, proposed by non-invasive prenatal screening (NIPT) as a reference for clinical genetic counseling. Case presentation Pregnant woman, Non-invasive prenatal screening suggested a 7.8 Mb deletion of chromosome 7 q36.1q36.3 and a duplication of 9.3 Mb in the region of 7q34q36.1. Conventional chromosome G-banding and chromosome microarray analysis(CMA) were performed on fetal amniotic fluid samples and parental peripheral blood samples. The fetal karyotype was 46, XY on conventional G-banding analysis. The CMA test results showed a deletion of approximately 7.8 Mb in the 7q36.1q36.3 region and a duplication of 6.6 Mb in the 7q35q36.1 region. The parents' karyotype analysis and CMA results were normal, indicating a new mutation. Conclusion CMA molecular diagnostic analysis can effectively detect chromosomal microdeletions or microduplications, clarify the relationship between fetal genotype and clinical phenotype, and provide a reference for prenatal diagnosis of chromosomal microdeletion-duplication syndrome.