We report phenotypically normal female carrying structural variants on both chromosomes 1 and 9. She was referred to the Recurrent Pregnancy Loss Clinic, National Research Centre, with a complaint of repeated miscarriage (5 consecutive first trimester miscarriages). Conventional cytogenetic study of the peripheral blood of the wife revealed 46, XX inv (1) (p32 q44) in all cells and inversion (9...

Agenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in approximately 1:1,000-1:6,000 births. Several syndromes associated with AgCC have been traced to single gene mutations; however, the majority of AgCC causes remain unidentified. We investigated a mother and two children who all shared complete AgCC and a chromosomal deletion at 1q42. We fine mapped this del...

All-trans retinoic acid (RA) induces complete remission in a high proportion of patients with acute promyelocytic leukemia (APL). Nevertheless, most of these patients develop RA resistance and relapse. The mechanisms of RA resistance by APL cells are still unclear. To understand the characteristics of human leukemia, human leukemic cell lines are useful tools for study. APL cells have a strikin...

Ž . At two caves Clamouse, S France and Ernesto, NE Italy , cave drip and pool waters were collected and sampled at intervals over a 2–3 year period. MgrCa and SrrCa concentration ratios, corrected for marine aerosols, are compared with those of bedrocks and, in some cases, aqueous leachates of soils and weathered bedrocks. Cave waters do not lie along mixing lines between calcite and dolomite ...

Penile squamous cell carcinoma is a rare disease, in which somatic genetic aberrations have yet to be characterized. We hypothesized that gene copy aberrations might correlate with human papillomavirus status and clinico-pathological features. We sought to determine the spectrum of gene copy number aberrations in a large series of PSCCs and to define their correlations with human papillomavirus...

Two unrelated patients with cryptic subtelomeric deletions of 22q13.3 were identified using FISH with the commercially available Oncor probe, D22S39. Proband 1 was found to have a derivative chromosome 22 resulting from the unbalanced segregation of a t(1;22)(q44;q13.32) in her mother. Additional FISH analysis of proband 1 and her mother placed the breakpoint on chromosome 22 in this family pro...

Three genetically distinct groups of Lactococcus lactis phages are encountered in dairy plants worldwide, namely, the 936, c2, and P335 species. The multiplex PCR method was adapted to detect, in a single reaction, the presence of these species in whey samples or in phage lysates. Three sets of primers, one for each species, were designed based on conserved regions of their genomes. The c2-spec...

AIM To identify chromosomal copy number aberrations (CNAs) in early-stage hepatocellular carcinoma (HCC) and analyze whether they are correlated with patient prognosis. METHODS One hundred and twenty patients with early-stage HCC were enrolled in our study, with the collection of formalin fixed, paraffin-embedded (FFPE) specimens and clinicopathological data. Tumor areas were marked by certif...

Proteostasis is the maintenance of the proper function of cellular proteins. Hypertonic stress disrupts proteostasis and causes rapid and widespread protein aggregation and misfolding in the nematode Caenorhabditis elegans. Optimal survival in hypertonic environments requires degradation of damaged proteins. Inhibition of protein synthesis occurs in response to diverse environmental stressors a...

21 Ž . Concentrations of cosmogenic Ne Ne measured in quartz have been used to estimate long-term rates of denudation c for contrasting landscape components in the Dry Valleys area of the Transantarctic Mountains, southern Victoria Land, Antarctica. Samples of Beacon Supergroup sandstones and granitic basement were collected from two contrasting landscape elements—low-relief, high-elevation sur...