BACKGROUND The incidence of abnormal pregnancies in carriers of balanced translocations depends strictly on the chromosomes involved in the translocations. The aim of this study was to verify whether conventional aneuploidy screening could be advantageously combined with preimplantation genetic diagnosis (PGD) for translocations. METHODS Twenty-eight carriers of Robertsonian and reciprocal tr...

Populations of wild boar (Sus scrofa scrofa L.) of Central Europe frequently demonstrate polymorphism in chromosome number. This phenomenon is caused by chromosome rearrangements of the centric fusion type. The presence of Robertsonian translocations in the wild boar population may lead to one of three different karyotypes: 2n=36, 2n=37 and 2n=38. The aim of the study was to analyse the karyoty...

t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian translocations t(13;15) and t(14;15). Both locus-specific probes (LSPs) and whole chromosome painting (WCP) probes, specific to chromosomes 13, 14 and 15, were used in this study. The number of spermatozoa scored for each carrier ranged from 891 to...

The most significant complication of pregnancy is recurrent miscarriage. Numerous factors have been described as associations with recurrent wastage such as: uterine abnormalities, immunological factors, endocrinologic imbalance and chromosomal defects. Cytogenetic evaluation of couples with recurrent pregnancy losses is performed on the basis of G-banding technique only after other possible et...

Failure of homologous synapsis during meiotic prophase triggers transcriptional repression. Asynapsis of the X and Y chromosomes and their consequent silencing is essential for spermatogenesis. However, asynapsis of portions of autosomes in heterozygous translocation carriers may be detrimental for meiotic progression. In fact, a wide range of phenotypic outcomes from meiotic arrest to normal s...

BACKGROUND Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imp...

A familial Robertsonian translocation 15/22 was ascertained through a female carrier whose four pregnancies ended in missed abortions. Eleven 15/22 translocation carriers were detected in three generations among 23 family members investigated. The four proven female carriers, apart from the proposita, have miscarried seven out of 14 pregnancies. The kindred suggests that the 15/22 translocation...