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Human Genetics · 2025 · Vol. 144 · Issue 11-12 · Springer
G-banded chromosome analysis, also known as G-banded karyotyping, remains a fundamental and irreplaceable diagnostic modality in clinical genetic testing. G-banded karyotypes provide whole genome visualization through chromosome banding patterns at the single-cell resolution for the diagnosis of chromosomal disorders. However, this method is labor-intensive and requires specialized expertise to manually analyze and karyotype m...