[Genetic and clinical characteristics of 22q11.2 deletion syndrome].

In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.

An exposure to the oxidized DNA enhances both instability of genome and survival in cancer cells.

Background: Cell free DNA (cfDNA) circulates throughout the bloodstream of both healthy people and patients with various diseases and acts upon the cells. Response to cfDNA depends on concentrations and levels of the damage within cfDNA. Oxidized extracellular DNA acts as a stress signal and elicits an adaptive response.

[Generation and application of dynamic standard reference intervals for analyzing results of comparative genomic hybridization].

The present work was aimed at generating the dynamic standard reference intervals (DSRI) and their application for chromosomal-aberration (CA) analysis. The evaluation of the generated DSRI was performed using the DNA samples from four patients with already known CA. High-resolution comparative genomic hybridization analysis (HR-CGH) allowed us to not only identify all of the CAs, that were not revealed by CGH, but also to detect the breakpoints and to determine the size of chromosomal imbalance.

A 3-year-old boy with ovotestes: gender reassignment and surgical management.

Objective: We report a male patient with ovotesticular disorder of sex development (OTDSD), resulting from structurally abnormal Y chromosome.

Case Report: A 3-year-old boy was admitted to the Surgical Pediatric Department for masculinizing reconstruction. He had a clitorophallus, bifid scrotum, perineal hypospadias and bilateral impalpable gonads.

Hidden X chromosomal mosaicism in a 46,XX male.

We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed severe oligoasthenoteratozoospermia.

Unique mosaic X/Y translocation/insertion in infant 45,X male.

We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments.

Analysis of cell-free fetal DNA in plasma and serum of pregnant women.

Sixty blood samples from pregnant women during gestational weeks 9-28 were investigated. Cell-free fetal DNA was extracted from maternal plasma or serum to be detected by nested PCR for determination of fetal gender. The SRY gene as a marker for fetal Y chromosome was detected in 34/36 women carrying a male fetus.

[Investigation of fetal cells isolated from maternal blood by different methods].

This paper presents the results of investigation of the isolated from maternal blood by 4 different methods according to the optimized protocols. All women had male fetuses. The mononuclear cells with fetal erythroblasts were preisolated by using density-gradient centrifugation of the maternal blood in the Ficoll solution.

[Maternal blood fetal cells: new noninvasive approach in prenatal diagnosis of hereditary diseases].

A new noninvasive approach to prenatal diagnosis of hereditary diseases is being actively developed, which is based on the use of different fetal cells contained in pregnant females. Due to the fact that the native concentration of fetal cells is extremely low, their isolation requires the application of different know-how enrichment and sorting techniques. Either the FISH method with chromosome-specific probes or PCR is used to examine the cell fraction isolated, which detects fetal sex, Mendelian disorders such as beta-globin mutations.

[A noninvasive approach to studying fetal cells for prenatal diagnosis of chromosomal aneuploidies].

Fetal cells isolated from maternal peripheral blood during the second trimester of pregnancy were analyzed. Blood samples were centrifuged in a Ficoll-Paque gradient, the mononuclear cell fraction was isolated and stained with fluorescent monoclonal antibodies against glycophorine A (GPA + PE), transferrin (CD71 + FITC), and Hoechst 33342. Fluorescence-activated cell sorting (FACS) was conducted on a Vantage flow cytofluorimeter (Becton Dickinson).

Low birth weight and risk of cardiac arrhythmias in children.

Background: This study aimed to investigate a possible association between low birth weight (LBW) and other perinatal major characteristics and the risk of a child having accessory pathways of conduction tissue and cardiac arrhythmia later in life.

Methods: Thirty-one children aged 1-15 years (12 boys, 19 girls), in whom the persistence of accessory pathways of conduction tissue in the heart and inducible reciprocating supraventricular tachycardia were confirmed by means of programmable transoesophageal pacing, constituted the study group. None of them exhibited signs of either inborn or acquired heart disease causing arrhythmia, and their parents and siblings did not suffer cardiac arrhythmias.

[Dependence of the concentration of maternal serum markers on the haptoglobin gene].

This paper is the first in a series devoted to the investigation of the possible effect of maternal genotype on the levels of fetal alpha-fetoprotein (AFP) and human chorionic gonadotrophin (HCG) entering maternal blood. We studied the possible association between the maternal haptoglobin system and levels of maternal AFP and HCG, which are markers of fetal pathology. Haptoglobin types were determined in groups of pregnant women with different levels of serum markers.

[Chorionic gonadotropin concentration dependence on the phenotype of the Rhesus system].

The phenotypes of the rhesus system in pregnant females were studied for impact on maternal blood chorionic gonadotropin (CGT) levels in the second trimester. The polymorphism of the rhesus system was determined in the groups of pregnant females (n = 1591) having different blood CGT levels. There was a significant increase in the frequency of the Rh(d) phenotype (p < 0.

[Chromosomal mosaicism of extraembryonic cell membrane, detected during prenatal diagnosis].

Data on detection of chromosomal mosaicism in amnionic cells and chorionic villi obtained by prenatal cytogenic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in "direct" villus preparations was 1.

[Various biochemical parameters in serum of pregnant women carrying fetuses with various congenital defects of development].

The number of changes in some maternal serum biochemical parameters for some congenital malformations are presented. In all pregnancies we observed low levels of LAT, AST, CPK, HBD, AP and high levels of GGTP, THY, amylase. These data demonstrate total depression in metabolism of women with an affected fetus.

[Translocation 11q;22q: a clinico-cytogenetic study].

Seven families with translocations t(11; 22) identified at our Institute and analysis of the literature showed that the imbalance resulted from such translocations is always due to nondisjunction 3:1. Nondisjunction occurs more often in the 1st meiotic division, and is more rare in the second one. Expressed prezygotic selection against spermia with an additional chromosome greatly increases the risk of having an imbalanced child for the women-carriers as compared to men-carriers.

[Significance of the maternal levels of serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol in various congenital developmental defects in pregnancy trimester II].

Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG) and unconjugated oestriol (uE3) concentrations were measured in maternal serum samples from 21 pregnancies with neural-tube defects, 4 pregnancies with ventral wall defects (VWD) and 1662 unaffected pregnancies in women. These congenital malformations were confirmed by ultrasound scanning. The mean multiplate of the median (MoM) for AFP and uE3 was significantly different from the control values in cases of open NTD (AFP median MoM = 5.

[Prenatal diagnosis as a method of prevention of congenital and hereditary diseases].

The program of the prevention of congenital and hereditary diseases with the aid of prenatal diagnosis includes a complex of different methods: ultrasonography, invasive procedures made at different times of pregnancy, obstetrical monitoring, immunochemical blood tests, fetal cytogenetic analysis, pathological, anatomical, and syndromological studies in abortuses. Emphasis is laid on the use of the data on ultrasound screening of the pregnant and screening of the mother's blood for some factors that form a group of women at a greater genetic risk, who require prenatal diagnosis. The efficacy of the preventive measures can be enhanced with combined use of instrumental, obstetrical and laboratory research methods.

[Detection of chromosomal abnormalities using cordocentesis].

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum.

[Results of the cytogenetic prenatal diagnosis in the first and second trimesters of pregnancy].

The authors analyze the results of prenatal diagnosis carried out in women during the first and second pregnancy trimesters. Cytogenetic screening was carried out in risk-group pregnant women, i.e.

Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.

Results are presented of alpha-L-iduronidase assays in the leukocytes of normal individuals, patients with Hurler disease and heterozygous carriers. The assays were carried out using 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide as substrates. It was shown that 4-trifluoromethylumbelliferyl-alpha-L-iduronide, along with the commonly used 4-methylumbelliferyl-alpha-L-iduronide, can serve as a specific substrate for alpha-L-iduronidase and is therefore suitable for demonstrating the enzyme deficiency in patients with Hurler disease, as well as the decrease of enzyme activity in heterozygous disease carriers.

[Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease].

Activity of alpha-L-iduronidase was studied in leukocytes of healthy persons, of patients with Hurler disease and of heterozygous carriers of the disease where 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide were used as substrates. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide proved to be also a specific substrate of alpha-L-iduronidase and enabled to detect the enzyme deficiency in patients with Hurler disease as well as a decrease of the enzymatic activity in heterozygous carriers of the disease. Using these two substrates prenatal diagnosis of Hurler disease was carried out in fetus which exhibited absence of the enzymatic activity in cell culture from amniotic fluid.