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Background The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information for genetic counselling, especially in prenatal diagnostics. However, in most cases it is impossible to define them precisely because the final clinical presentation is a result of an overlap, usually due to different sizes of deletions and/or duplications not only chromosome 3 but also of translocation partner chromosome. In this article, we present a prenatal diagnosis of the 3q duplication syndrome in a foetus, arising from a balanced insertion ins (7,3)(q21.2;q12.3q29) carried by the mother. Case presentation The article presents a case of a 29-year-old woman referred to the Genetic Outpatient Clinic for consultation in the 12th week of her fifth pregnancy with a diagnosis of generalised hydrops foetalis. The analysis of karyotype using GTG technique and FISH allowed diagnosis of a balanced aberration in the mother, and determined the type of chromosomal rearrangement, which allowed the identification of the origin of the additional genetic material in the foetus and the previous malformed child of the same couple. The use of molecular karyotyping techniques (FISH and aCGH) allowed a precise determination of the size of the imbalanced fragments in the affected siblings. Conclusions The aCGH technique is particularly valuable for the diagnostics of submicroscopic deletions and duplications, if no imbalanced chromosomal aberrations are detected by routine cytogenetic tests. It is also a valuable technique for identifying and fully characterizing genetic material of unknown origin, which can’t be identified using routine cytogenetic techniqes. However, it does not allow identification of balanced aberrations in carriers.

Background: Allergy is associated with the loss of tolerance of environmental antigens, combined with a pathological immune response. There were no studies up to date that would show whether the quality of semen decreases in people with allergic diseases. Material and methods: The research included men who reported to the Gynecological Outpatient Clinic due to reproductive difficulties, defined as the lack of pregnancy after one year of regular intercourse. Semen quality was assessed according to the World Health Organization (WHO) standard. All patients underwent skin prick tests with the most important inhalation allergens (such as hazel, silver birch, mugwort, rye, dog, cat, Dermatophagoides farinae, Dermatophagoides pteronyssinus, alder, Alternaria alternata, Cladosporium herbarum, and grass mix). The data was statistically analyzed. Results: Results of 52 patients aged 25–52 years (34.62 ± 4.96) were analyzed. The mean BMI (Body mass index) was 28.25 (+ −3.77). It was found that 38 men (73%) had increased body weight, and 14 men (26.9%) were obese (BMI > = 30). 13 patients were smokers (25%), and 24 patients (46%) had skin tests positive for at least one inhaled allergen. Sperm tail defects were statistically more significant in patients allergic to birch, rye, cat, alder, and grass. In patients allergic to Alternaria alternata, head defects were statistically more significant ( p < .05). No association was found between allergy to house dust mites, mugwort, hazel, and dogs and the deterioration of semen. Conclusion: Allergy due to inhalation allergens had an influence on the quality of male semen. Further research is necessary to establish the immunological bases of this phenomenon.

Background Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation. This may cause infertility, non-implantation of the embryo, shorter embryo or foetus survival, as well as congenital defects and developmental disorders in children after birth. The increasing popularity of cytogenetic molecular techniques, such as microarray-based CGH (aCGH), contributed to the improved detection of chromosomal abnormalities in patients with intellectual disability, however, these modern techniques do not allow the identification of the balanced in potential carriers. Therefore, classical chromosome analysis with GTG technique still plays an important role in the identification of balanced rearrangements in every case of procreation failure. Case presentation In this article, a family with multiple occurrences of 17p13.3 duplication syndrome in the offspring and multiple miscarriages resulting from carrying of the balanced reciprocal translocation t(7;17)(p22;p13.2) by proband father is presented. The aCGH diagnostics allowed the identification of an unbalanced fragment responsible for the occurrence of clinical signs in the female patient, while karyotyping and FISH using specific probes allowed the localization of the additional material in the patient chromosomes, and identified the type of this translocation in the carriers. Conclusions Identification of a balanced structural aberration in one of the partners allows direct diagnostics for the exclusion or confirmation of genetic imbalance in the foetus via traditional invasive prenatal diagnostics. It is also possible to use an alternative method, Preimplantation Genetic Diagnosis (PGD) after in vitro fertilization, which prevents initiating pregnancy if genetic imbalance is detected in the embryo.

Genetic amniocentesis (GA) is the most common prenatal diagnostic test. One of the main indications for GA is maternal age ofor = 35 years. In many countries, the age indication has been replaced by an assessment of individual risk for chromosomal abnormalities, calculated on the basis of maternal age, pregnancy duration, as well as a combination of biochemical and ultrasound markers.The aim of the study was to investigate indications for and results of GA performed between 2010-2012 at the Department of Gynecology Obstetrics, and Oncologic Gynecology Nicolaus Copernicus University Collegium Medicum, Bydgoszcz.A total of 632 GA tests were performed at the Department of Gynecology Obstetrics, and Oncologic Gynecology Nicolaus Copernicus University Collegium Medicum, Bydgoszcz. Average maternal age was 34 (between 17 and 47 years), with patients35 constituting 47.9% (N = 303), and patientsor = 35 constituting 52.1% (N = 329) of the investigated group. Indications for GA as well as test results were analyzed in relation to maternal age. The result of earlier non-invasive tests were also analyzed.Abnormal ultrasound findings, combined with abnormal first-trimester screening results, were the most common indication (46.53%) for GA in patients35 years, whereas abnormal first-trimester screening results, combined with a history of obstetric complications, were the reason for GA in patientsor = 35 years. Mean time of GA was 16 gestational weeks in both groups. Abnormal karyotype was detected in 74 (11.7%) cases. 13 or any other abnormal karyotypes occurrence were observed in both age groups. GA-related complications (miscarriage/intrauterine fetal death) occurred in 9 (1.42%) cases.If performed properly GA between 15 and 20 weeks of pregnancy is a harmless procedure both, for the mother and the fetus, associated with an acceptable complication rate. Prenatal screening for the most common malformations and chromosomal aberrations should be offered to all pregnant women in Poland, regardless of their age.

The loss of three or more subsequent pregnancies before the end of the 22nd week is observed in 0.4-1% of women. Despite great advances in medicine, the causes of pregnancy failure (miscarriages, missed abortions and stillbirths), and the birth of a child or children with congenital abnormalities, are still not determined preciselyThe purpose of the research was to determine the association of polymorphisms and mutations of coagulation factors II and V genes, as well as methylenetethrahydrofolate reductase (MTHFR) gene polymorphism, with the course of pregnancy and the type of reproductive failure.The research was performed in a group of 116 women referred to the Genetic Outpatient Clinic of the NCU SM in Bydgoszcz between 2009-2010 due to reproductive failures. The molecular tests for thrombophilia, i.e. mutation of the factor V Leiden, prothrombin gene mutation 20210GA, and MTHFR polymorphism 677CT were done in all patients.The Leiden mutation was found in 8 women (homozygotic in 2 of them) and prothrombin gene mutation in 3.85 women had the heterozygotic MTHFR polymorphism, while 24 the homozygotic one. Coexistence of the Leiden mutation and the MTHFR polymorphism was found in 3 patients with history of miscarriages.1. The presence of the mutations that promote thrombophilia in the genes responsible for the foliate metabolism and for the plasma coagulation is often associated with pregnancy failures and may be their basic cause in some cases. 2. The percentage of women with pregnancy failures being heterozygotes (73.3%), homozygotes (20.7%) or both (94%) of the MTHFR gene 677CT polymorphism is statistically significantly higher than the highest prevalence of these changes in the general population (55, 13%, and 68%, respectively). 3. The factor V gene Leiden mutation is associated mainly with recurrent spontaneous abortions. In the present study it was found only in the group of women with both early and late miscarriages.

A lack of offspring caused by sterility of one or both partners is an increasing social problem that concerns 10-19% of couples. This percentage is even higher if we take into consideration those couples who cannot have healthy offspring in spite of being able to conceive a baby. The aim of the paper was to analyze the awareness of the effect of smoking on reproductive failures in couples with infertility or habitual abortions, and in couples experiencing miscarriages and having a child or children with congenital defects. The couples underwent cytogenetic, and in some cases, molecular analysis in the Genetic Outpatient Clinic at Dr. A. Jurasz University Hospital in Bydgoszcz.The studied group consisted of 201 couples. In the medical documentation analysis the following aspects were taken into consideration: the patient's age, family history, genetic determinants, infections, environmental and occupational factors, which might have caused reproductive failures in the examined couples.26.4% of women admitted cigarette smoking, they most often represented the group of couples having a child born with defects; 46.8% of men admitted smoking and they most often represented the group of couples that experienced habitual abortions.Although it is obvious that cigarette smoking during gestation period is extremely harmful to the mother and the fetus and may significantly contribute to reproductive failures, public awareness of this problem is still insufficient and smoking habit is unfortunately widespread among pregnant women.

The negative influence of tobacco smoke on the course of bronchial asthma is complex and includes direct toxic effects on the epithelium of the respiratory tract. It is estimated that in developed countries, approximately 25 percent of adult asthmatics are tobacco smokers. Knowledge of the scale of the habit, may considerably contribute to the optimization of effective pro-health activity. The aim of this study was to analyze the occurrence of tobacco smoking among patients with the respiratory system disease.The study group comprised 371 patients (136 men and 235 women, aged 18-30) with diagnosed bronchial asthma and treated in the Allergy Outpatient Clinic in Swiecie, Poland. They were subjected to an analysis aimed at determining the reasons for tobacco smoking and smoking-related behavior in the patient's closest environment.In the examined group, there were 92 tobacco smokers (63 men and 29 women). The multi-variant analysis showed that hanging around smoking friends, the pleasure of smoking and experienced relaxation were the most frequent motivation for taking up smoking. Similar reasons, hanging around smoking friends, group acceptance, and pleasure of smoking, were reported by 59.8%, 43.5%, and 43.5% of patients, respectively. The behavior of people in the closest environment influenced the majority of smokers with asthma; 80% of patients reported current smoking and 88% of patients in medical history. The proportion of non-smokers was 47 and 34%, respectively.To sum up, it should be stated that despite of the fact that smoking is a documented risk factor, young patients with bronchial asthma are still subjected to this habit.

Circulating immunological complexes are the answer of the immunological system on appearing in the organism of the substance about the character of antigenic. The growth of the concentration of immunological complexes is described in many diseases among others in allergies. The aim of the work was the opinion of levels of circulating immunological complexes serums smoke patients and no smokes with the hypersensitivity of I type. Patients serums given an examination with the hypersensitivity of the type I (n = 22) smoking (n = 11) and nonsmoking (n = 11). 45 persons been careful for healthy made up the supervisory group. The level of circulating immunological complexes was studied the simple method of PEG precipitation according to the Haskov method. Smoking patients step out higher levels of CIC in the hypersensitivity of the type I than at patients who don't smoke.

Allergies of the respiratory system are very often at children. Passive smoking may predispose to allergies. The last news shows that smoking at home increases incidence of asthma. It's concerned passive smokers, especially children. Analysis of controlling asthma, exacerbations was made with ACT test. The larger amount of points in ACT test was obtain the better control of asthma was ascertain. Parents were smokers. In this research 164 children and teenagers between 12 and 18 years old from Swiecie and Bydgoszcz, patients Allergologic Outpatients Clinic in 2005-2006, took part. Asthma Control Test was made after the treatment was started. This results show that there is a strong dependence between smoking at home and controlling asthma bronchiale. The correct score--25 points (means that asthma was controlled properly) was at 75% of patients with no smoking at home. At smoker's home every second child has controlled the disease properly. In families where parents smoke a lot every fifth child has no control of the disease. In families, where parents didn't smoke it was only 3%. This analysis shows that there is a strong dependence between frequency of smoking and amounts of points in ACT test. In families where parents smoke rarely children received maximum score in ACT test than in families where patients smoke a lot. There is also dependence between the age of the members of the household and smoking. It is terrifying that there are far more smoking parents at the age of 35 and younger. In this study the ACT was recognized as useful test to control asthma. If smoking parents undergo antinicotine therapy treatment of asthma will be improved.

A harmful influence smoking on health is well known and documented. Smoking during pregnancy has negative influence not only on mothers but also on embryos. In spite of pregnancy is a very good reason to stop smoking only every third pregnant stop smoking during pregnancy. Nicotine, carbon monoxide and cyanide, components of smoke, are very toxic. They have negative influence on immunological mechanisms, and may cause some abnormalities. The aim of this article was to analyse smoking among pregnant, patients of Prenatal Outpatient Clinic where risk of abnormalities and defects during pregnancy is very high. 1088 pregnant, admitted to the prenatal clinic during 2005-2006, was analysed. 288 women were smokers, which made 26% of all patients. There was 23.2% high educated and 43.3% with basic education. Despite of the fact that smoking has negative influence on embryos, pregnant still are smokers. That's why antinicotine therapy should be used during pregnancy.

Mutations in cystic fibrosis transductance regulator gene (CFTR) are known to result in some forms of male infertility. An association between CFTR gene mutations and obstructive azoospermia in cystic fibrosis (CF) and in congenital unilateral and bilateral absence of vas deferens (CUAVD, CBAVD) has been proven. However, the role of CFTR gene mutations in the etiology of non-obstructive azoospermia, as well as in the regulation of spermatogenesis remains unsolved.The aim of the study was to evaluate the frequency of CFTR mutations in patients diagnosed with different forms of spermatogenesis impairmentThe molecular analyses were performed in the group of 93 infertile men, diagnosed with either azoospermia, oligospermia or asthenoteratozoospermia.The results of the study revealed the presence of F508del and IVS8-T in 5.4% of analyzed cases. No difference in CFTR gene mutations frequencies among patients with azoospermia, oligospermia and asthenoteratozoospermia has been observed.The CFTR gene mutations frequency in men with nonobstructive azoospermia, oligozoospermia and asthenozoospermia is similar to those observed in general population.

In Poland 35% of women, 25% of them being in reproductive age, smoke cigarettes. Substances included in tobacco smoke have highly toxic properties. Their presence in the human organizm may affect immunological mechanisms which are an important element determining dynamic balance betwen the mother and the fetus. The aim of the article is to compare the level of AFP and circulating immune complexes (KKI) concentrations in smoking and non smoking pregnant women in the second trimester. The levels of immunological complexes in the women's sera were determined by means of the Elisa immuno-enzymatic method using DRG Instruments GmbH Germany tests. The levels and the properties of circulating immune complexes were estimated in sera of 27 women being in the second trimester of pregnancy by means of polyethylene glycol (PEG) precipitation test. Molecular weight of the proteins of CIC was studied by SDS/PAGE. In the group of smoking women AFP levers were higher and KKI levels were lower than in the non smoking women group.

The allergies of respiratory system are at children the frequent illnesses. Among favorable them factors, risk on passive smoking tobacco can be also. Passive smoking is defined as risk non-smoking on tobacco smoke in environment. Recent reports represent that smoking in home environment tobacco increase on passive smokers' asthma morbidity, especially children in school age. It in it was report the necessity of leadership of anti-nicotine education was underlined in the face of smoking parents. It bets that she should motivate she better parents to cessation smoking, using authority of doctor and love parental. Acting we decided with these principles to analyze effectiveness two year anti-nicotine education which be applied in the face of all treated smoking parents of children with reason of chronic allergic diseases of respiratory system in out-patients. The study comprised parents of 146 children at the Allergy out-Patients clinic, who were diagnosed and cured in years 2003-2005. Generally were 292 persons. The children be treated with reason of bronchial asthma and allergic rhinitis. It the data on subject of smoking of tobacco were collected was on basis of interview got from parents during visits at information bureau on beginning the treatment the children, in his track as well as after two years of education. The anti-nicotine education was applied by whole period of observation during routine medical visits. In moment beginning of treatment in studied group the parents' and education children (n = 292) it 79 the parents' couple did not smoke. Smoking parents among remaining 67 steams were. From among them parents 13 children smoked both, only father in 36 cases smoked and mother in remaining 18 parents' couple smoked. 80 parents smoked with generally. 63 persons after two years of anti-nicotine education the nonsmoking committed one from group smoking. 22 persons among them were from among 24 fathers and 17 mothers' peer in which smoked both parents. Remaining smoking and non-smoking parents granted that children tried to restrain to minimum stay in environment smoking. We on basis of received results to affirm that child's disease has on parents' behaviour essential influence can. It in child was affirmed was all analyzed situations characteristic decrease number with diseased child of smokers' families. Recapitulating anti-nicotine education of the children's parents diseased on chronic allergic diseases of respiratory system is very good restrictive agent their exposition on smoking the tobacco. Contemporaneously in effective way influences on decisions of adults about cessation smoking and the healthy style of life promotes.

The causes of primary sterility are complex and frequently difficult to elucidate. Cytogenetic anomalies are responsible for sterility in 5-10% infertile couples.Analysis of genetic background of primary sterility in 35 infertile couples.72h cultures of peripheral blood lymphocytes, GTG and CBG banding, fluorescence in situ hybrydization (FISH) with whole chromosome painting (WCP) probes. Karyotype analysis was performed in each patient out of 35 infertile couples referred to genetic counsel. SRY and CFTR gene mutation analysis by PCR was performed in all men with abnormal sperm.Chromosome aberrations were found in 6 couples. Klinefelter syndrome (47,XXY) was disclosed in 2 men. Isochromosome i(Xq) was found in 1 woman. The structural balanced translocations were found in 2 men; t(15;16)(q13;p13.3), t(1;19)(p35;q13.3) and a robertsonian translocation t(14;21)(q10;q10) in one. All men with chromosome aberrations had sperm anomalies: oligozoospermia, astenozoospermia, cryptozoospermia or azoospermia. There was a CFTR mutation, deltaF508, in one man and no SRY mutation in molecularly examined men with sperm abnormalities.In couples with primary sterility mainly the men are carriers of chromosome aberrations (CA). Because of 17.14% risk of the presence of chromosome aberrations in these couples, cytogenetic analysis should be an obligatory element of infertility diagnosis.

About 10-15% of clinically diagnosed pregnancies end by spontaneous abortion. One of the causes of recurrent abortions is the presence of chromosome aberrations in a parent. The paper presents the results of cytogenetic investigations in 107 couples referred to genetic council clinic because of at least 2 spontaneous abortions. Cytogenetic analysis was performed on peripheral blood lymphocytes after standard 72h PHA-stimulated culture. At least 20 GTG- and CBG-banded metaphases were analyzed in each patient. Fluorescence in situ hybridization technique was used as to precisely define cytogenetic results. Chromosome aberrations were found in 7 couples (6.54%), exclusively in women. Numerical aberration (47,XXX) was present in 1 woman, and balanced structural aberrations in 6 (5.61%). In 3 of them balanced translocations were disclosed: t(7; 19)(p13;p13.3), t(8;16)(q24;q22), and t(3;8)(q21;p21), in 2--inversions: inv(2)(p25q31), inv(17)(p12p13.3), and in 1--der(20). Pericentric inversion of chromosome 9 was found in 3 men. The analysis of nongenetic factors showed that neither age, nor congenital anomalies of uterus could be an important factor causing abortions in analyzed couples with aberrations. However, infections and muta- or teratogenic exposure could contribute to loss of pregnancies in some cases. Authors conclude that karyotype analysis should be an integral part of diagnostics in couples with recurrent abortions.

Symptoms of andropause syndrome such as: erectile dysfunction, somatovegetative and psychic symptoms have been examined in groups of smoking and non-smoking patients between 45 and 75 years of age Tests of testosterone, prolactin and SHBG levels have been carried out. Earlier andropause, a lower level of testosterone as well as more common arterial hypertension have been found in the group of smoking patients.

112 patients from infertile couples with diagnosed asthenospermia and oligoasthenospermia have been examined. The results have been analysed in view of smoking. An increased number of antisperm antibodies have been detected in smoking patients. No difference between the two groups examined according to WHO standards have been found.

Congenital somato-sexual disturbances include wide range of classic syndromes, as well as different types of numerous or isolated developmental defects. 28 women with disorders of sexual development were clinically and cytogenetically analyzed.Clinical and cytogenetic evaluation of patients with disorders of somato-sexual development.28 women, 17-35 years old, were included in the study. Analysis data were performed on the basis of clinical records from Department of Obstetrics and Woman's Diseases of Medical University in Bydgoszczy. Cytogenetic investigations were carried out on standard lymphocyte culture method.Turner's syndrome was found in 12 women; 45, X in 7 mosaic karyotype 45, X/46, XX in 4, isochromosome i(Xq) in 1.3 women had normal, male karyotype, 46, XY. One of them had dysgenetic gonads of malignant dysplesia transformation. One patient's karyotype was 47, XXX. 12 women with gonadal dysgenesis--karyotype 46, XX.1. Patients with congenital disorders of somato-sexual development are a heterogenous group. 2. Laparoscopy an effective diagnostic and treatment method in women with disorders of congenital somato-sexual development.