We have developed array Comparative Genomic Hybridization for Caenorhabditis elegans as a means of screening for novel induced deletions in this organism. We designed three microarrays consisting of overlapping 50-mer probes to annotated exons and micro-RNAs, the first with probes to chromosomes X and II, the second with probes to chromosome II alone, and a third to the entire genome. These arr...

it is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (azf) in yq 11.23. however, it is not known whether yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (oligo...

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...

Deletions of the long arm of chromosome 11 (11q) are one of the most frequent structural chromosome aberrations in various types of lymphoproliferative disorders. However, in most conventional chromosome banding studies of B-cell chronic lymphocytic leukemia (B-CLL), 11q deletions were not identified as a frequent aberration. The objective of this study was to analyze the frequency and clinical...

Individuals with the 18q- syndrome have variable deletions from the long arm of chromosome 18. They also exhibit a highly variable phenotype. To correlate genotype with phenotype accurately, extensive molecular and phenotypic analyses are needed on each affected individual. As a part of this analysis, we have determined the parental origin of the deleted chromosome in 34 individuals with the 18...