Journal Article

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

Leng, Pei, Wang, Wei, Zhan, Lin, Xu, Lu

2026

Overview

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.

• Publisher: BioMed Central,Springer Nature B.V,BMC
• Subject: Biomedical and Life Sciences / Biomedicine / Cartilage / Case reports / Child development / Chromosomal microarray analysis (CMA) / Chromosomal microdeletions/microduplications / Chromosome 5 / Chromosomes / Clinical significance / Copy number / Cytogenetics / Disease / Families & family life / Fetuses / Genes / Genetic counseling / Genomes / Genotype & phenotype / Human Genetics / Medical diagnosis / Metabolism / Molecular Medicine / Phenotypes / Pregnancy / Prenatal diagnosis / Proteins / Transfer RNA / Variant of uncertain significance / Whole genome sequencing / Whole-exome sequencing (WES)