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Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q
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Abstracts / Journal of Biotechnology 256S (2017) S44–S116
We reviewed files of 1006 patients from our clinic prediagnosed with FMF between 2015 and 2016 years. We obtained results from Computation and Administration System of Hospital. Tests were performed by using Qiagen Pyrosequencing Q96 ID Systems (Biotage, Uppsala, Sweden). We observed pathogenic variants in 53% of our patient and female/male ratio was 1:3. The disease is characterized by recurrent fever episodes, arthralgia and abdominal pain; and these are the most frequent symptom in mutation-detected patients. M694V, R202Q, E148Q, M680I and V726A are the most frequent variants. K695R mutation is the most frequent variant in patients with the abdominal pain. We detect that the consanguinity ratio was 24%, homozygote variants were detected in 9% of patients. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1058 Frequency of chromosome variants in families with recurrent pregnancy loss and statistical analysis of infertility Beyzanur Gunsili 1 , Ruslan Bayramov 2 , Sercan Kenanoglu 2,∗ , Muhammet Ensar Dogan 2 , Meltem Cerrah Gunes 2 , C¸etin Saatc¸i 2 , Yusuf Ozkul 2 , Munis Dundar 2 1
Erciyes University, Faculty of Medicine, Kayseri, Turkey 2 Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey E-mail address: [email protected] (S. Kenanoglu).
Infertility is defined as pregnancy cannot be achieved despite the unprotected sexual intercourse for 1 year. In this work, we evaluated files of 517 couples with infertility and 2239 couples with RPL and described some parameters. By the light of these data we made statistics of the chromosome variants and its frequencies which are seen in infertility and RPL cases. We observed different types of heterochromatic variations such as translocations like 47,XXX, 46XX,t(6;15); 46XX,t(7;9); 46XX,t(11;21); 46XX,t(10;18); 46XX,t(13;14). Among them, inv(9) is the most observed chromosomal variants with the 0.36%. In our study we also observed 20% of couples with infertility and 25% of couples with RPL had a consanguineous marriage which makes us suspicious about relation between RPL and consanguinity. While we analysed the consanguineous marriage frequencies and years of marriage between 1988–2012 years we observed significant decrease, which proves the importance and benefit of consciousness-raising of population. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1059 Retrospective results of 18 years prenatal diagnosis cases and its evaluation Ruslan Bayramov 1,∗ , Mehmet Serdar Kutuk 2 , Sercan Kenanoglu 1 , Meltem Cerrah Gunes 1 , Muhammet Ensar Dogan 1 , Yusuf Ozkul 1 , C¸etin Saatc¸i 1 , Munis Dundar 1 1
Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey 2 Erciyes University, Faculty of Medicine, Department of Obstetrics and Gynecology, Kayseri, Turkey E-mail address: [email protected] (R. Bayramov). The main parameter of prenatal diagnosis is to diagnose abnormalities as early as possible to make the necessary decision. Obtaining
the accurate information about the fetus will assist the family in making their own decision regarding personal, social and ethical principles is the priority of the prenatal diagnosis. We started our study by exploring results of the samples from 3751 pregnant women after doing CVS, AS and CS with the aim of prenatal diagnosis, between the years of 1997–2015, in the Department of Gynecology and Obstetrics of Gevher Nesibe Research Hospital and other hospitals. Results were retrospectively studied in terms of the success of cell culture, invasive indications and their genetic results. In our study we observed the majority of indication for test is a high risk in screening tests (n = 1205, 33.31%). Also, advanced maternal age (n = 1106, 30.58%) and abnormal ultrasonographic examination (n = 766, 21.18%) were at the highest percentages. Chromosome aberrations were detected in 4.98% of cases. Karyotype aberration rate was higher in abnormal ultrasonographic examination (10.84%), high risk in screening test (4.11%), and advanced maternal age (3.35%). http://dx.doi.org/10.1016/j.jbiotec.2017.06.1060 Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q Muhammet E. Dogan 1 , Mehmet Serdar Kutuk 2 , Ruslan Bayramov 1 , Cetin Saatci 1 , Yusuf Ozkul 1 , Munis Dundar 1,∗ 1
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey 2 Department of Obstetrics and Gynaecology, Erciyes University, Faculty of Medicine, Kayseri, Turkey E-mail address: [email protected] (M.E. Dogan). Wolf–Hirschhorn syndrome is characterized by growth and mental retardation, distinctive craniofacial features (high forehead, hypertelorism, broad and flat nasal bridge, prominent glabella known as “Greek helmet” like appearance), congenital hypotonia, midline defects, and seizures. This syndrome is a rare chromosomal disorder caused by a partial deletion of the short arm of chromosome 4. Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. Although the aetiologies of these syndromes vary, they share several features including growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female foetus with deletion of 4p15.3 → pter and duplication of 13q22 → qter due to unbalanced segregation of t(4;13)(p15.3;q22) in the father. The foetus had low-set ears, hypertelorism, prominent glabella, frontal bossing, gastroschisis, dysgenesis of the corpus callosum, small cerebellum, staphyloma and single umbilical artery. It is a very rare combination of chromosomal abnormalities. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1061 In vitro cytogenotoxic effect of eucalyptol Hasan Basri I˙ la 1,∗ , Esra Ozdemir 2 1
Department of Biology, Cukurova University, Adana, Turkey 2 Natural and Applied Science Institute, Department of Biology, Cukurova University, Adana, Turkey E-mail address: [email protected] (H.B. I˙ la).
Abstracts / Journal of Biotechnology 256S (2017) S44–S116
We reviewed files of 1006 patients from our clinic prediagnosed with FMF between 2015 and 2016 years. We obtained results from Computation and Administration System of Hospital. Tests were performed by using Qiagen Pyrosequencing Q96 ID Systems (Biotage, Uppsala, Sweden). We observed pathogenic variants in 53% of our patient and female/male ratio was 1:3. The disease is characterized by recurrent fever episodes, arthralgia and abdominal pain; and these are the most frequent symptom in mutation-detected patients. M694V, R202Q, E148Q, M680I and V726A are the most frequent variants. K695R mutation is the most frequent variant in patients with the abdominal pain. We detect that the consanguinity ratio was 24%, homozygote variants were detected in 9% of patients. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1058 Frequency of chromosome variants in families with recurrent pregnancy loss and statistical analysis of infertility Beyzanur Gunsili 1 , Ruslan Bayramov 2 , Sercan Kenanoglu 2,∗ , Muhammet Ensar Dogan 2 , Meltem Cerrah Gunes 2 , C¸etin Saatc¸i 2 , Yusuf Ozkul 2 , Munis Dundar 2 1
Erciyes University, Faculty of Medicine, Kayseri, Turkey 2 Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey E-mail address: [email protected] (S. Kenanoglu).
Infertility is defined as pregnancy cannot be achieved despite the unprotected sexual intercourse for 1 year. In this work, we evaluated files of 517 couples with infertility and 2239 couples with RPL and described some parameters. By the light of these data we made statistics of the chromosome variants and its frequencies which are seen in infertility and RPL cases. We observed different types of heterochromatic variations such as translocations like 47,XXX, 46XX,t(6;15); 46XX,t(7;9); 46XX,t(11;21); 46XX,t(10;18); 46XX,t(13;14). Among them, inv(9) is the most observed chromosomal variants with the 0.36%. In our study we also observed 20% of couples with infertility and 25% of couples with RPL had a consanguineous marriage which makes us suspicious about relation between RPL and consanguinity. While we analysed the consanguineous marriage frequencies and years of marriage between 1988–2012 years we observed significant decrease, which proves the importance and benefit of consciousness-raising of population. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1059 Retrospective results of 18 years prenatal diagnosis cases and its evaluation Ruslan Bayramov 1,∗ , Mehmet Serdar Kutuk 2 , Sercan Kenanoglu 1 , Meltem Cerrah Gunes 1 , Muhammet Ensar Dogan 1 , Yusuf Ozkul 1 , C¸etin Saatc¸i 1 , Munis Dundar 1 1
Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey 2 Erciyes University, Faculty of Medicine, Department of Obstetrics and Gynecology, Kayseri, Turkey E-mail address: [email protected] (R. Bayramov). The main parameter of prenatal diagnosis is to diagnose abnormalities as early as possible to make the necessary decision. Obtaining
the accurate information about the fetus will assist the family in making their own decision regarding personal, social and ethical principles is the priority of the prenatal diagnosis. We started our study by exploring results of the samples from 3751 pregnant women after doing CVS, AS and CS with the aim of prenatal diagnosis, between the years of 1997–2015, in the Department of Gynecology and Obstetrics of Gevher Nesibe Research Hospital and other hospitals. Results were retrospectively studied in terms of the success of cell culture, invasive indications and their genetic results. In our study we observed the majority of indication for test is a high risk in screening tests (n = 1205, 33.31%). Also, advanced maternal age (n = 1106, 30.58%) and abnormal ultrasonographic examination (n = 766, 21.18%) were at the highest percentages. Chromosome aberrations were detected in 4.98% of cases. Karyotype aberration rate was higher in abnormal ultrasonographic examination (10.84%), high risk in screening test (4.11%), and advanced maternal age (3.35%). http://dx.doi.org/10.1016/j.jbiotec.2017.06.1060 Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q Muhammet E. Dogan 1 , Mehmet Serdar Kutuk 2 , Ruslan Bayramov 1 , Cetin Saatci 1 , Yusuf Ozkul 1 , Munis Dundar 1,∗ 1
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey 2 Department of Obstetrics and Gynaecology, Erciyes University, Faculty of Medicine, Kayseri, Turkey E-mail address: [email protected] (M.E. Dogan). Wolf–Hirschhorn syndrome is characterized by growth and mental retardation, distinctive craniofacial features (high forehead, hypertelorism, broad and flat nasal bridge, prominent glabella known as “Greek helmet” like appearance), congenital hypotonia, midline defects, and seizures. This syndrome is a rare chromosomal disorder caused by a partial deletion of the short arm of chromosome 4. Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. Although the aetiologies of these syndromes vary, they share several features including growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female foetus with deletion of 4p15.3 → pter and duplication of 13q22 → qter due to unbalanced segregation of t(4;13)(p15.3;q22) in the father. The foetus had low-set ears, hypertelorism, prominent glabella, frontal bossing, gastroschisis, dysgenesis of the corpus callosum, small cerebellum, staphyloma and single umbilical artery. It is a very rare combination of chromosomal abnormalities. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1061 In vitro cytogenotoxic effect of eucalyptol Hasan Basri I˙ la 1,∗ , Esra Ozdemir 2 1
Department of Biology, Cukurova University, Adana, Turkey 2 Natural and Applied Science Institute, Department of Biology, Cukurova University, Adana, Turkey E-mail address: [email protected] (H.B. I˙ la).