Unbalanced translocations involving chromosome region 10q25.3q26.3 in patients with intellectual disability and complex phenotypes.

We describe 2 Ukrainian families with unbalanced reciprocal translocations (RTs) involving the distal part of chromosome 10q. In both families, the fathers were healthy carriers of the RT. Two affected patients from the first family had an ∼2.

[Karyotyping results of spontaneous abortions and miscarriages specimens obtained after using assisted reproductive technologies].

The results of molecular cytogenetic study of spontaneous abortions and material non progressive pregnancies in the first trimester in 43 couples who were treated with various methods of ART are presented in this report. Chromosomal pathology (CP) was present in 28 (65 %) samples of chorionic villi. A comparative analysis of the frequency and types of CPs in groups, composed according to the pathological states in the semen of men was done.

[Genetic factors of male infertility. The role of complex examination in the cases of different spermatogenesis disorders].

Data about some male infertility genetic factors is presented and methods that can be used for its diagnostics are considered. Among genetic factors changes of the genetic apparatus at gene level (mutations), chromosome level (chromosomal aberrations), and total DNA (chromatin dispersion, DNA fragmentation) are pointed out. Beside standard cytogenetic diagnostic techniques, spermogram and DNA diagnostics, there are a number of molecular-cytogenetic methods (FISH, TUNEL, SCSA, SCGE, SCD).

[The most frequent chromosomal abnormalities in karyotypes of patients with reproductive problems].

Results of cytogenetic and molecular-cytogenetic inspection of 210 matrimonial pairs with the problems of reproduction are presented. Different types of chromosomal aberrations have been detected in the karyotypes of the patients in 46 (10.95%) cases.

[The role of ultrasonic and cytogenetic markers in prenatal diagnostics].

As a result of leadthrough 288 invasive manipulations with the use of cytogenetic and molecular-cytogenetic methods we have found 16 different disorders in the fetus karyotype of the expectant mothers of high risk groups. For the most part the Down syndrome and the Shereshevsky-Therner syndrome were detected among aneuploidies. The maximal amount of anomalous karyotypes (28.

[Prenatally identified case of mosaicism of chromosome 16 trisomy].

We present the prenatally identified case of mosaicism of chromosome 16 trisomy. A patient with the pregnancy complicated in the first trimester by the threat of breaking was refered to the high risk group according to the results of the screening program. The ultrasonic research revealed a number of phenotypical pathologies in 19-weeks-old fetus such as congenital heart disease (ventricular septal defect), hyperechoic bowel, single umbilical artery and some other ones.

[Molecular-cytogenetic study of the aborted fetuses in women with reproductive function disorders].

It is known that the frequency of chromosomal abnormalities among spontaneous miscarriages of the first trimester of pregnancy makes 50-60%. Research of karyotypes of chorionic villus cells of miscarriages has been conducted by combining the standard cytogenetic method and the FISH analysis on interphase nuclei of centromeric specific DNA samples by the tests to the chromosomes 13/21, 14/22, 15, 16, 18, X, Y. The described complex approach can be successfully applied for effective identification ofchromosomal abnormalities in the material of spontaneous miscarriages.

[A case of deletion of the short arm of the chromosome 21 (21p-) (christchurch chromosome) discovered prenatally:clinical and cytogenetic data].

Results of cytogenetic research of placental villi and amniotic fluid cells culture of the 22-weeks-old fetus with multiple congenital malformations (MCM) are presented. The absence of the short arm in one of the homologue of the chromosome 21 was revealed. Cytogenetic analysis of the fetus father's blood lymphocytes determined the similar chromosome.

[Uptake of testosterone by tissues of human fetal prostatic rudiments].

The common and specific uptake of 3H-testosterone (3H-T) by tissues of urogenital sinus (UGS) and bladder (BL) in human 10-12 weeks fetuses was studied. The values of common and specific 3H-T uptake in UGS were significantly higher than those in BL. A high specific uptake of labeled hormone was also detected in UGS mesenchyme separated from epithelium.

[Local expression of cytokeratins 8, 17 and 18 in the mesenchyme and smooth muscles in the early stages of human organogenesis].

Expression of cytokeratins 7, 8, 17, 18 in human embryos and fetuses of 6.5-13 weeks was studied using light and electron immunocytochemistry and immunoelectroblotting with the monoclonal antibodies. Cytokeratins 8 and 18 were expressed in 6.

[Marker proteins of the differentiation of cultured human prostatic epithelial cells].

The typical differences in the protein spectrum of cultured epithelial cells of the human definitive prostate and its premordium were revealed by the electrophoresis and electrofocusing procedure. Marker proteins typical of the cultured prostate epithelial cells, which underwent differentiation, have molecular weight of 70000-74000 Dalton and their isoelectric points are 6.6; 7; 7.

Electrophoretic marker of differentiated human prostate secretory epithelial cells.

Electrophoretic analysis of primordial human prostate epithelium, glandular secretory epithelium of prostate and other human tissues revealed a marker characteristic of differentiated secretory prostate cells. Being probably neither protein nor lipid in chemical nature, this marker reacted in a peculiar way with Amido Black 10B. The marker was shown to be present in prostatic secretory substance.