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Background: The aim is to investigate the origin of a rare fetal double partial trisomy 6 and 9 using CMA and guide reproductive counseling.
Methods: Parental karyotyping and fetal chromosomal microarray analysis (CMA) were performed to analyze chromosomal abnormalities. A literature review was conducted for similar cases.
Results: Parental karyotyping revealed a maternal balanced translocation, 46,XX,t(6;9)(p25;q21.1), while the fetus had 47,X?,+der(9)t(6;9)(p25;q21.1)dmat, indicating duplication 6pter→p25 and 9pter→q21.1. CMA confirmed both fragments as pathogenic copy number variations (pCNVs). This represents the first reported case of concurrent partial trisomy 6 and 9.
Conclusions: The aberration likely resulted from 3:1 meiotic segregation. CMA enhances detection of chromosomal abnormalities and their origins. Prenatal invasive testing remains crucial for translocation carriers.
DOI: 10.7754/Clin.Lab.2025.250440
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