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dc.contributor.advisorÖzdemir, Muhsin
dc.contributor.authorKhadem Ansari, Sara
dc.date.accessioned2020-12-29T11:23:03Z
dc.date.available2020-12-29T11:23:03Z
dc.date.submitted2016
dc.date.issued2018-08-06
dc.identifier.urihttps://acikbilim.yok.gov.tr/handle/20.500.12812/400290
dc.description.abstractCinsiyet kromozomlarının anomalileri prenatal ve postnatal tanıda en sık gözlenen kromozom anomalileridir ve insidansı 448 yenidoğanda birdir. Cinsiyet kromozom anomalili bireylerdeki klinik, ilgili anöploidiler ve mozaiklik durumuna göre değişkenlik gösterir ve otozomal anöploidilere göre daha hafif klinik göstermektedir.Çalışmamız periferik kandan cinsiyet kromozom düzensizliklerinin sitogenetik ve moleküler sitogenetik verilerinin değerlendirilmesi amacıyla Ocak 2013 ve Aralık 2015 tarihleri arasında Eskişehir Osmangazi Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalında gerçekleştirilmiştir. Klinefelter Sendromu, Hipogonadotropik Hipogonadism, Ambigus Genitalya, Azoospermi, Turner Sendromu, Primer Amenore ve Primer İnfertilite ön tanıları ile kliniğimize yönlendirilmiş 469 olguda kromozom aberasyon sıklığı değerlendirilmiştir.Retrospektif çalışmamıza dahil edilen 469 olguda, %87 (n=408) normal kromozom kuruluşu ve %13 (n=61) kromozomal anomaliler tespit edilmiştir. Toplam 61 anomalili olgunun %13.11'i (n=8) otozomal anomaliler, %86.89'u (n=53) cinsiyet kromozom anomalilerinden oluşmaktadır. Karyotipleme sonucunda, otozomal anomalilerde en çok translokasyon tipi anomaliler (n=5), cinsiyet kromozom anomalilerinde ise en çok 47,XXY (n=33) kromozom kuruluşu tespit edilmiştir. Periferik kandan elde edilen karyotip analizinde en çok Klinefelter Sendromu olgularında anomali tespit edilmiştir (%50). Takiben Hipogonadotropik Hipogonadism (%27.27), Ambigus Genitalya (%21.43), Azoospermi (%14.2), Turner Sendromu (%12.33), Primer Amenore (%7.4) ve Primer İnfertilite (%5.13) olgularında kromozomal anomaliler gözlenmiştir.
dc.description.abstractSex chromosome abnormalities are the most common chromosomal abnormalities detected on prenatal diagnosis and at birth with an estimated incidence of 1 in 448 newborns. The clinical severity of sex chromosome anomalies vary according to related aneuploidies and mosaic status and it is less than that associated with autosomal aneuploidy.In our study different clinical Characteristics of sexual development were investigated in order to evaluate the cytogenetic and molecular cytogenetic data in patient's peripheral blood, in Eskisehir Osmangazi University Faculty of Medicine Medical Genetics Department. Chromosome aberration frequency was evaluated in 469 cases that were referred with various clinical suspicions of sex chromosomal abnormalities, including Klinefelter Syndrome, Hypogonadotropic Hypogonadism, Ambigus Genitalia, Azoospermia, Turner Syndrome, Primary Amenorrhea and Primary İnfertility.Karyotype results of the 469 patients revealed %87 with normal chromosome composition (n=408) and %13 with chromosomal abnormalities (n=61). Autosomal abnormalities were detected in 8 cases with a frequency of %13.11, whereas sex chromosome anomalies were identified in 53 cases with a frequency of 86.89%. In autosomal abnormalities the most commonly detected abnormalities were translocations and in sex chromosome abnormalities it was XXY. In sex chromosome abnormalities, the most commonly detected abnormality was in cases with Klinefelter Syndrome (50%). followed by Hypogonadotropic Hypogonadism (27.27%), Ambiguous Genitale (21.43%), Azoospermia (14.2%), Turner Syndrome (12.33%), Primary Amenorrhea (7.4%) and Primary İnfertility (5.13). In conclusion, retrospective evaluation of cytogenetic and molecular cytogenetic analysis of the referral cases over 3 years contributes to formation of regional data.en_US
dc.languageTurkish
dc.language.isotr
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightsAttribution 4.0 United Statestr_TR
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectGenetiktr_TR
dc.subjectGeneticsen_US
dc.titleCinsiyet kromozom düzensizliklerinin sitogenetik ve moleküler sitogenetik verilerinin değerlendirilmesi
dc.typemasterThesis
dc.date.updated2018-08-06
dc.contributor.departmentTıbbi Genetik Anabilim Dalı
dc.subject.ytmSex chromosomes
dc.subject.ytmSex chromosome abnormalities
dc.subject.ytmCytogenetics
dc.subject.ytmChromosome aberrations
dc.subject.ytmDisorders of sex development
dc.identifier.yokid10144086
dc.publisher.instituteSağlık Bilimleri Enstitüsü
dc.publisher.universityESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ
dc.identifier.thesisid460356
dc.description.pages93
dc.publisher.disciplineDiğer


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