[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.

A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.

Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation. Here we report on a 4 months-old 46,XY sex reversed infant with typical clinical features for CD due to a novel mutation of the SOX9 gene, Q401X, leading to synthesis of a truncated SOX9 protein that completely lacks the C-terminal transactivation domain.

[Potentiation insulin coma therapy by regional and lateral electric stimulation]. / Potentsirovanie insulinokomatoznoi terapii zonal'no-lateral'nymi élektrostimuliatsiiami.

Clinicopsychopathological and clinicostatistical methods were employed to explore reverse dynamics of psychopathological symptomatology in the course of insulin coma therapy of 200 schizophrenic patients. 90 patients received insulin coma therapy in combination with zonal and lateral stimulations by means of subsensory pulse current at a frequency of 1 to 30 Hz. Right hemispheral exposure potentiated antipsychotic action of insulin comas. After left hemispheral exposure insulin comas provoked temporary exacerbation of symptomatology. The new modification was called lateral potentiated insulin coma therapy. The use of the therapy made it possible to attain a more rapid reverse development of psychotic symptomatology, to reduce the number of comas required per treatment course, to raise the quality and duration of the remissions attained.

[Modulation of the hypoglycemic effect of insulin during lateral transcerebral electrostimulation]. / Moduliatsiia gipoglikemicheskogo deistviia insulina pri lateral'noi transtserebral'noi élektrostimuliatsii.

Experiments on rabbits have studied the effect of lateral transcerebral electrical modulations with weak impulse current on hypoglycemic insulin effect. Two series of experiments were performed on 15 intact animals each. Right-sided electrical stimulation in the first series of experiments produced a trend toward a decrease in fasting blood sugar concentration. In the second series of experiments there was hypoglycemic action of a standard exogenous insulin dose. Transcerebral left-sided electrical stimulation caused no such effects. It has been concluded that the modulation of hypoglycemic exogenous insulin effect was possible due to unilateral transcerebral right-sided electrical stimulation.

[Lateral modulation of the hypoglycemic action of insulin]. / Lateral'naia moduliatsiia gipoklikemicheskogo deistviia insulina.

The results of the experimental investigation on 15 rabbits are presented here. Hypoglycemic action of the standard exogenic insulin dose strengthened after performing transcerebral lateral electrostimulation on the right side with the weak current impulse.