BACKGROUND Selection of the best embryo for transfer is very important in assisted reproductive technology (ART). Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART. OBJECTIVE The ai...

Aneuploidy, an aberrant chromosome number, has been recognized as a common characteristic of cancer cells for more than 100 years and has been suggested as a cause of tumorigenesis for nearly as long. However, this proposal had remained untested due to the difficulty of selectively generating aneuploidy without causing other damage. Using Cenp-E heterozygous animals, which develop whole chromos...

The main objective of the present study was to develop an efficient and reliable probe to be routinely used for detection of chromosome 13 copy numbers by interphase FISH. To achieve this, a Yeast Artificial Chromosome (YAC) containing sequences specific for human 13q12 (744D11), was cultured and the whole yeast genomic DNA was extracted. The human insert within the isolated DNA was amplified b...

| Genetic instability, which includes both numerical and structural chromosomal abnormalities, is a hallmark of cancer. Whereas the structural chromosome rearrangements have received substantial attention, the role of whole-chromosome aneuploidy in cancer is much less well-understood. Here we review recent progress in understanding the roles of whole-chromosome aneuploidy in cancer, including t...

Defects in the distribution of chromosomes during mitotic division such as sister chromatid nondisjunction or detachment of kinetochore microtubules at anaphase can give rise to aneuploid cells, for example to a monosomic and a trisomic daughter cell. It is well-known that aneuploidy contributes significantly to carcinogenesis. Also, a relationship between advanced chronological age and increas...

Structural neuroimaging of humans with typical and atypical sex-chromosome complements has established the marked influence of both Yand X-/Y-chromosome dosage on total brain volume (TBV) and identified potential cortical substrates for the psychiatric phenotypes associated with sex-chromosome aneuploidy (SCA). Here, in a cohort of 354 humans with varying karyotypes (XX, XY, XXX, XXY, XYY, XXYY...

Background: With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method rather newly introduced, experiences with false positive results are few. Even rare cases of discordant may cause psychological stress.
 Aim Study: The aim this study was to examine NIPT tests in high-risk pregnancies. literat...

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(...

Double aneuploidy in Down's syndrome was first described by Ford et al (1959) in a patient showing both Down's and Kilnefelter's syndromes. Since then, at least 33 further cases of Down's syndrome have been described with additional aneuploidy (see Table). Approximately half of these are associated with autosomal aneuploidy, the remainder with abnormalities of the sex chromosomes among which ar...

Aneuploidy is a common feature of cancer, with human solid tumour cells typically harbouring abnormal chromosome complements. The aneuploidy observed in cancer is often caused by a chromosome instability phenotype, resulting in genomic heterogeneity. However, the role aneuploidy and chromosome instability play in tumour evolution and chemotherapy response remains poorly understood. In some cont...