PURPOSE To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. METHODS Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. RESULTS Embryonal cataracts cosegregated through three generations with a balanced chromoso...

During childhood, the thyroid gland is one of the most sensitive organs to the carcinogenetic effects of ionizing radiation that may lead to papillary thyroid carcinoma (PTC) associated with RET/PTC oncogene rearrangement. Exposure to ionizing radiation induces a transient "oxidative burst" through radiolysis of water, which can cause DNA damage and mediates part of the radiation effects. H(2)O...

Defective V(D)J rearrangement of immunoglobulin heavy or light chain (IgH or IgL) or class switch recombination (CSR) can initiate chromosomal translocations. The DNA-damage kinase ATM is required for the suppression of chromosomal translocations but ATM regulation is incompletely understood. Here, we show that mice lacking the ATM cofactor ATMIN in B cells (ATMIN(ΔB/ΔB)) have impaired ATM sign...

Background: B-cell lymphoblastic leukaemia (B-ALL) is a malignancy of immature B-cells with several described recurrent genetic abnormalities. These have distinct clinico-pathological associations and show regional variation in prevalence. In all previously reported series, the translocation t(1;19) uncommon, comprising 40 years age, but also 8.1% children. Crude survival rates were overall poo...

BACKGROUND Massively parallel sequencing of circulating cell free (ccf) DNA from maternal plasma has been demonstrated to be a powerful method for the detection of fetal copy number variations (CNVs). Although the detection of CNVs has been described by multiple independent groups, genomic aberrations resulting in copy number-neutral events including balanced translocations have proven to be mo...

Chromosomal instability is a hallmark of cancer. The results of this instability can be observed in the karyotypes of many cancerous genomes, which often contain a variety of aberrations. In this study we introduce a new approach for analyzing rearrangement events in carcinogenesis. This approach builds on a new effective heuristic for computing a short sequence of rearrangement events that may...

It has long been appreciated that tumor cells carry chromosomal aberrations (1). Deviation from the paired ordering of autosomes and sex chromosomes by either increasing or decreasing the copy number of a given chromosome, is referred to as aneuploidy. Errors in the faithful segregation of chromosomes during mitotic or meiotic cell division play a crucial role in the generation of chromosomal a...