PURPOSE To investigate the prevalence of chromosomal abnormalities in couples with two or more recurrent first trimester miscarriages of unknown cause. METHODS The study was conducted on 151 women and 94 partners who had an obstetrical history of two or more consecutive first trimester abortions (1-12 weeks of gestation). The controls were 100 healthy women without a history of pregnancy loss...

Two case histories are presented documenting structural chromosome abnormalities in infertile males. The abnormalities were detected only after application of intracytoplasmic sperm injection (ICSI) was repeatedly unsuccessful or resulted in an abnormal pregnancy. A mosaic Robertsonian translocation 45,XY,der(13;13)(q10; q10)/46,XY,t(13;13)(p10;p10), der(13p;13p) incompatible with normal offspr...

We report a case of Robertsonian translocation associated with azoospermia. The literature is reviewed, and testicular histology and hormone condition are discussed. Isoji Sasagawa, MD, Department of Urology, Saiseikai, Fukushima General Hospital, 4-15 Sakuragi-cho, Fukushima-shi, Fukushima 960 (Japan) Introduction It is well-known that sex chromosome abnormalities are related to male infertili...

A 74-year-old man with colorectal carcinoma treated with surgery and adjuvant chemotherapy with oxaliplatin and fluorouracil 6 years previously was admitted with fever and suspicion of sepsis. Laboratory tests showed hemoglobin 137 g/L, mean corpuscular volume 94.7 fL, platelets 177 109/L, leukocytes 2.0 109/L, and neutrophils 0.8 109/L. Within 4 days his condition deteriorated rapidly with pro...

Introduction One of the important causes of male infertility is aberration at the chromosomes. Aim The main purpose of this study was to determine the frequency and types of chromosomal aberration in infertile/sterile men whose samples were analyzed in the Center for Cytogenetics of Faculty of Medicine University of Sarajevo in the last four years. Methods A total of 353 infertile/sterile m...

Exposure to particulate matter (PM) is a major world health concern, which may damage various cellular components, including the nuclear genetic material. To assess the impact of PM on nuclear genetic integrity, structural chromosomal aberrations are scored in the metaphase spreads of mouse RAW264.7 macrophage cells. PM is collected from ambient air with a high volume total suspended particles ...

There are marked qualitative and quantitative differences in the patterns of chromosomal damage observed after irradiation of spermatogonia, spermatozoa and oocytes of mice. These differences often result from reduced or zero transmission of particular classes of abberration arising in pre-meiotic germ cells. Probably this is the reason why the level of X-chromosomal and autosomal monosomy is n...

The term 'genomic disorder' refers to a disease that is caused by an alteration of the genome that results in complete loss, gain or disruption of the structural integrity of a dosage sensitive gene(s). In most of the common chromosome deletion/duplication syndromes, the rearranged genomic segments are flanked by large (usually >10 kb), highly homologous low copy repeat (LCR) structures that ca...