Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family

BACKGROUND: Copy number variants (CNVs) represent a significant source of genomic diversity, encompassing both benign and pathogenic variations. The accurate interpretation of CNVs identified during prenatal diagnosis is crucial for appropriate genetic counseling and management. The literature on 5p13.3p13.2 microduplication is rare, which is a challenge for genetic counseling. MATERIALS AND METHODS: A 35-year-old, gravida 2, para 1, woman underwent amniocentesi at 18 weeks of gestation due to advanced maternal age. We performed conventional karyotyping, chromosomal microarray analysis (CMA) and quartet whole-exome sequencing (WES) on this family. RESULTS: We report a case of prenatal diagnosis and genetic counseling of a paternally inherited 5p13.3p13.2 microduplication. In this family, both the father and the fetus carry the identical microduplication yet exhibit a normal phenotype. CONCLUSION: Submicroscopic chromosomal microdeletions and microduplications are often undetectable by conventional cytogenetics. The integration of prenatal ultrasound, karyotyping, CMA, and WES is therefore essential for accurate diagnosis.