Background

Extra chromosome copies markedly alter the physiology of eukaryotic cells, but the underlying reasons are not well understood. In humans trisomy either results in developmental defects or miscarriage. Trisomy 21, the so-called Down’s Syndrome, is the most abundant form which occurs in 1 out of 750 live births. Standard means to diagnose Down’s syndrome are blood-based screenings, ultrasound and finally invasive prenatal diagnostic methods such as amniocentesis or chorionic villus sampling.

Technology Overview

Scientists from the Max Planck Institute of Biochemistry engineered stable cell line models for trisomy 21, 18 and 13, the most abundant types of trisomies observed in viable human embryos. The cell lines were generated by microcell-mediated chromosome transfer using the human colon carcinoma cell line