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  • Küçük Resim Yok
    Öğe
    Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
    (Thieme Medical Publ Inc, 2022) Atli, Emine Ikbal; Atli, Engin; Yalcintepe, Sinem; Demir, Selma; Kalkan, Rasime; Akurut, Cisem; Ozen, Yasemin
    The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9Mb) deletion, and 8p22p12 (16.8Mb) deletion. Our study highlights the importance of genetic testing in CHD.
  • Küçük Resim Yok
    Öğe
    Prenatal Sitogenetik Anormallikler ve Ultrasonografik olarak Saptanan Fetal Anomalilerin Korelasyonu
    (2022) Atlı, Emine İkbal; Atlı, Engin; Yalçıntepe, Sinem; Akurut, Cisem; Demir, Selma; Gürkan, Hakan; Varol, Füsun
    Bu çalışmada, Trakya Üniversitesi Tıp Fakültesi Hastanesi'nde 8 yıllık süreçte anormal ultrasonografi bulguları ile gelen 141 adet amniyosentez, 9 koryon villus ve 5 fetal kan örneği sitogenetik olarak analiz edilmiştir. Amacımız ultrasonografi taramasında anomali riski öngörülen gebeliklerdeki karyotipik anormalliklerin korelasyonunu belirlemekti. Amniyosentez, koryon villus ve kordosentez örnekleri ile yapılan hücre kültürlerinden elde edilen karyotipler değerlendirilmiştir. Ayrıca hızlı tanı için interfaz nukleuslarında X,Y,13, 18,21 kromozomları için floresan insitu hibridizasyon yöntemi ile anöploidi taraması yapılmıştır. Anormal ultrasonagrafi bulgusu ile refere edilen 155 hastadan 23 tanesinde (%14.83) kromozom anomalisi saptanmıştır. NT artışı en sık tespit edilen ultasonografi bulgusuydu. Kromozom anomalilerinden 2 tanesi yapısal kromozom anomalisi olarak değerlendirildi. Geriye kalan 21 hastada saptanan anomaliler sayısal kromozom anomalisiydi. Bu 21 sayısal anomaliden 5 tanesi trizomi 13, 3 tanesi trizomi 18, 13 tanesi trizomi 21’dir. Trizomi 21 vakalarından 1 tanesi kordosentez materyalinden, 1 tanesi ise CVS materyalinden elde edilmiştir. Sonuçlarımız, yüksek riskli bir populasyonda kromozom anomalileriyle, ultrasonografik bulgular arasındaki ilişkinin anlamlı olduğunu ortaya çıkarırken, seçilen ultrasonografik belirteçlerin fetüsteki anöploidiyi saptamadaki geçerliliğini doğrulamaktadır.
  • Küçük Resim Yok
    Öğe
    Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience
    (2023) Atlı, Emine İkbal; Akurut, Cisem; Gurkan, Hakan; Yalçıntepe, Sinem; Demir, Selma; Atlı, Engin
    Objectives: Male infertility is a large and unexplored global health problem in terms of prevalence. Chromosomal polymorphisms may be associated with infertility and recurrent spontaneous abortions. Non-protein coding and frequently repetitive satellite DNA sequences are found in these regions. Methods: This study aims to present a genetic laboratory experience in the evaluation of frequency, type and significance of Y chromosome polymorphism of Turkish patients with reproductive system problems. The study included 435 patients aged 18-60 years with a documented clinical diagnosis of infertility. Results: In our study, 435 individuals were analyzed cytogenetically and 75 of them (17.24%) were found to carry chromosomally polymorphic variants in Y chromosome. We detected increased heterochromatin structure in the long arm of chromosome Y (Yqh+) as a common variant in our patient group. The frequency of chromosomal polymorphism Yqh- is % 11.26. The rate of chromosomal polymorphism we detected is close to those reported in the literature (10-15%) and statistically significant (p < 0.001), twice that found in the normal population (2-5%). Conclusions: Findings support that Y chromosome polymorphisms may be associated with infertility risk and may play an important role in the development of infertility. More research combining genome studies and other fields is needed to clarify the relationship of Y chromosome polymorphisms with and to infertility.