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

May 17, 2026Molecular CytogeneticsOpen Access

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Key Points

This research aims to accurately diagnose a paternal chromosome 5p13.3p13.2 microduplication during prenatal testing and provide effective genetic counseling.
A 35-year-old woman underwent amniocentesis at 18 weeks of gestation due to advanced maternal age.
Conventional karyotyping, chromosomal microarray analysis (CMA), and quartet whole-exome sequencing (WES) were performed on the family.
Analysis involved identifying genomic variations and their implications for genetic counseling.
The paternally inherited 5p13.3p13.2 microduplication was identified in both father and fetus, both showing a normal phenotype.
The findings highlight the limitations of conventional cytogenetics in detecting submicroscopic chromosomal variations.
CMA and WES integration is crucial for accurate prenatal diagnosis, enhancing genetic counseling.

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Demonstrates accurate prenatal diagnosis outcomes in a family with a specific genetic variant, indicating its importance for counseling.

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Wang et al. (2026) studied this question.

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