background: approximately 205 million pregnancies occur each year in the worldwide. on the other hand, spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. the most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with...

We developed several novel tools to genome wide screen for CNVs and SNPs in single cells. When applied to cleavage stage embryos from young fertile couples we discovered, unexpectedly, an extremely high incidence of chromosomal instability, a hallmark of tumorigenesis (Vanneste et al., Nature Medicine, 2009; Vanneste et al., Hum.Reprod., 2011). Not only mosaicisms for whole chromosome aneuploid...

Abstract Glioblastoma (GBM) is the most common and aggressive primary brain cancer in adults. Although multiple oncogenic mutations have been identified neural stem cells of subventricular zone (SVZ) humans, dynamic process how tumor initiation begins with a mutation-harboring remains elusive. To better understand GBM evolves, we analyzed longitudinal transcriptomic changes using spontaneous, s...

Although gallbladder carcinoma (GBC) is a highly malignant neoplasm, there is very limited information about the molecular changes involved in its pathogenesis. To identify the chromosomal locations of putative tumor suppressor gene loci involved in the pathogenesis of GBC, we conducted a genome-wide allelotyping or loss of heterozygosity (LOH) analysis of GBCS: Microdissected tissue from 24 ar...

A child with multiple congenital anomalies and retardation was found to have a translocation involving chromosome No. 1 and a chromosome of the G group. The affected child has a minute centric fragment of unknown origin in addition to the 1;G translocation. Although the translocation is found throughout 4 generations, the child described here is the only known instance of fetal abnormality in t...

Budding yeast has undergone several independent transitions from commercial to clinical lifestyles. The frequency of such transitions suggests that clinical yeast strains are derived from environmentally available yeast populations, including commercial sources. However, despite their important role in adaptive evolution, the prevalence of polyploidy and aneuploidy has not been extensively anal...