Friebe-Hoffmann U

No ORCID on file · 1 paper in corpus
case-report 2026
Molecular cytogenetics ·doi:10.1186/s13039-026-00762-7

BACKGROUND: Partial trisomy 21 is a rare chromosomal aberration that can provide unique insights into genotype-phenotype correlations in Down syndrome (DS). While non-invasive prenatal testing (NIPT) has become a widely used screening tool …