[FREQUENCIES OF FETAL CHROMOSOMAL ABERRATIONS DETECTED BY AMNIOCENTESIS: OUR 15-YEARS EXPERIENCE].

Amniocentesis is the most common and reliable prenatal diagnostic method for chromosomopathies. The purpose of the present study is to retrospectively evaluate our 15-year experience with prenatal cytogenetic diagnosis by amniocentesis, focusing on the indications and rates of chromosome abnormalities. The current study involve prenatal cytogenetic analysis from 564 amniocentesis performed at the Department of Medical Genetics, St. George University Hospital, Plovdiv between January 2000 and December 2014. Among clinical indications, abnormal maternal serum screening results (54.96%; 310/564) have been the most common indication for amniocentesis. Chromosomal abnormalities were detected in 5.5% (31/546) of cases. Structural rearrangements were the most common abnormality found (16/3 1;51,61%) with prevalence of balanced aberrations--11 cases. The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis due to known family history of chromosomal abnormality (15.1%), followed by abnormal fetal ultrasound finding group (7.69%), increasing-risk maternal prenatal screening results (4.52%), and advanced maternal age (3.28%). This study provides important information for prenatal genetic counseling of families at risk with aim of prenatal care and prevention during pregnancies.

[CYTOGENETIC ANALYSIS OF PATIENTS WITH PRIMARY AMENORRHEA].

Primary amenorrhea is one of the common reproductive disorder affecting females. It leads to the absence of menarche in the reproductive age group in females and/or complete absence of reproductive organs. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Thus, the role of the clinical geneticists in terms of diagnosis, risk assessment, genetic counseling and management of patients with primary amenorrhea and their families is essential. The genetic contribution to amenorrhea is studied both at the cellular and molecular level aiming at chromosomal abnormalities and gene mutations. In the present study we aim to perform chromosomal analysis in 140 patients present with primary amenorrhea employing GTG banding technique. The resulting karyotype revealed 67.4% (n = 95) with normal chromosome composition and 32.6% (n = 46) showed chromosomal abnormalities. In patients with abnormal chromosome constituents, 20% (n = 9) exhibit numerical aberration, 22% (n = 10) showed structural abnormalities, 43% (n = 20) mosaic genotype and 15% (n = 7) of cases--male karyotype. Furthermore, the involvement of Y chromosome and the origin of marker chromosome was confirmed by applying fluorescent in situ hybridization (FISH) in four patients.

[PRENATAL DIAGNOSIS OF FOETAL TRISOMY 3Q WITH PATERNAL ORIGIN].

Balanced chromosomal translocations do not generally have phenotypic manifestation, but lead to increased risk of miscarriage and live-birth of chromosomally unbalanced offspring in carriers. Frequently prenatal diagnosis of an unbalanced translocation may incidentally detect a balanced translocation in the family. Here, we report a unique case of trisomy 3q (karyotype 46,XYder(3)t(3;21)(q11;p11)), detected prenatally due to abnormal findings of the fetus ascertained through ultrasound assessment like growth retardation, vermal agenesis, micrognathia, cystic hygroma of the neck, dextra position of arcus aortae, shorter for the gestational week long bones In order to determine the paternity of this chromosomal aberration, the cytogenetic analyses of the parents was performed. A balanced paternal translocation 46,XY,t(3;21)(q11;p11) wase identified. During the next pregnancy the same balanced translocation of paternal origin wase also identified. This case demonstrate the significance of prenatal ultrasound screening of the fetus; the necessity of cytogenetic analysis of a fetus with prenatal ultrasound abnormalities; genetic counseling of such families with aim of prenatal care and prevention during next pregnancies.

Investigation of fasciculation and elongation protein ζ-1 (FEZ1) in peripheral blood reveals differences in gene expression in patients with schizophrenia.

Schizophrenia (SZ) is a chronic neuropsychiatric disorder characterized by affective, neuromorphological and cognitive impairment, deteriorated social functioning and psychosis with underlying molecular abnormalities, including gene expression changes. Observations have suggested that fasciculation and elongation protein ζ-1 (FEZ1) may be implicated in the pathogenesis of schizophrenia. Nevertheless, our current knowledge of the expression of FEZ1 in peripheral blood of schizophrenia patients remains unclear. The purpose of this study was to identify the characteristic gene expression patterns of FEZ1 in peripheral blood samples from schizophrenia patients. We performed quantitative reverse-transcriptase (qRT-PCR) analysis using peripheral blood from drug-free schizophrenia patients (n = 29) and age and gender-matched general population controls (n = 24). For the identification of FEZ1 gene expression patterns, we applied a comparative threshold cycle (CT) method. A statistically significant difference of FEZ1 mRNA level was revealed in schizophrenia subjects compared to healthy controls (p = 0.0034). To the best of our knowledge, this study is the first describing a down-regulation of FEZ1 gene expression in peripheral blood of patients with schizophrenia. Our results suggested a possible functional role of FEZ1 in the pathogenesis of schizophrenia and confirmed the utility of peripheral blood samples for molecular profiling of psychiatric disorders including schizophrenia. The current study describes FEZ1 gene expression changes in peripheral blood of patients with schizophrenia with significantly down-regulation of FEZ1 mRNA. Thus, our results provide support for a model of SZ pathogenesis that includes the effects of FEZ1 expression.

[Acetyl-CoA-synthetase activity of pigmented staphylococci]. / Atsetil-KoA-sintetaznaia aktivnost' pigmentirovannykh stafilokokkov

In 19 strains of staphylococci a study was made of the activity of acetyl-CoA-synthetase reaction. All the strains possessed an active enzymatic system transforming the acetate into an active form. The activity of acetyl-CoA-synthetase proved to be much greater in the pigmented staphyloccus strains than in the nonpigmented ones. It is supposed that there existed an association between the acetyl-CoA-synthetase and the biogenesis of carotinoid pigments in Staph. aureus.