Among full autosomal trisomies, only trisomies of chromosome 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome) are compatible with postnatal survival. But the mechanisms, how a supernu
Bold formatting indicates the 3q26 rearrangement. *AML = acute myeloid leukemia and MDS = myelodysplastic syndrome. †The chromosomal aberration implicating the EVI1 locus is indicated with bold format
Abstract Induced pluripotent stem cells (iPSCs) are generated from adult cells that have been reprogrammed to pluripotency. However, in vitro cultivation and genetic reprogramming increase genetic ins
This is a new method to reduce bias from PCR amplified libraries, here applied to the problem of detecting a small increase of reads on chromosome 21 in a mixture of normal DNA and trisomy 21 DNA.
