FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chromosome X (i(Xq)), using whole-genome tiling path array comparative genomic hybridization (aCGH), ultra-high resolution targeted aCGH and sequencing, we provide evidence that the FoSTeS and MMBIR mechanisms can generate large-scale gross chromosomal rearrangements leading to the deletion and duplication of entire chromosome arms, thus suggesting an important role for DNA replication-based mechanisms in both the development of genomic disorders and cancer. Furthermore, we elucidate the mechanisms of dicentric i(Xq) (idic(Xq)) formation and show that most idic(Xq) chromosomes result from non-allelic homologous recombination between palindromic low copy repeats and highly homologous palindromic LINE elements.

Hydrothorax as a sole manifestation of congenital parvovirus B19 infection.

We present a case of congenital parvovirus B19 infection in a term neonate manifested with isolated massive hydrothorax and mild anemia. Parvovirus B19 DNA was detected in maternal and neonatal blood as well as in pleural fluid despite lack of suggestive serology.

Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome.

Objective: To describe the clinical and laboratory features of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and to provide evidence for its etiology.

Design: Case report.

Setting: General hospital.