Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples wit...

T cell receptor (TCR) and variable region genes are assembled from germ-line gene segments located in a single chromosomal locus in which TCR segments are situated between TCR segments. The TCR enhancer (E ) located at the 3 end of the TCR locus functions over a long chromosomal distance to promote TCR rearrangement and maximal TCR expression; whereas the TCR enhancer (E ) is located among the ...

A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46, XY, add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but...

A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used genome-wide long mate-pair sequencing to systematically screen for inherited and de novo structural variation in a trio including a child with severe congenital abnormalities. We identified 4321 inherited structural variants and 17 de novo r...

The chromosomal disorders make a significant contribution to human mortality and morbidity. Karyotyping allows the identification of various chromosomes involved in a rearrangement. Chromosomal aberrations occur in approximately 1 in 200 live – born infants and the incidence of reciprocal translocations (rcpts) occur as 1/ 500 live births. Balanced reciprocal translocations can lead to a variet...

We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy (TEM) analysis. Conventional lymphocyte karyotype analyses highlighted different reciprocal balanced translocations: t(12;13), t(4;9), t(...

The Streptomyces glaucescens genome frequently undergoes gross genomic rearrangement events which result in the deletion of extremely large segments of chromosomal DNA. The structure and origin of the DNA forming the novel junctions arising from five of these deletion events are described. Only one junction proved to be the result of a relatively simple event; the remainder were more complex, w...

In order to apply gene-order rearrangement algorithms to the comparison of genome sequences, Pevzner and Tesler bypass gene finding and ortholog identification and use the order of homologous blocks of unannotated sequence as input. The method excludes blocks shorter than a threshold length. Here we investigate possible biases introduced by eliminating short blocks, focusing on the notion of br...