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    Multiple Intestinal Atresia in Two Siblings Born of a Close Consanguineous Marriage: Case Report
    (Ortadogu Ad Pres & Publ Co, 2011) Uguralp, Sema; Karaman, Abdurrahman; Savaci, Serap
    Hereditary multiple intestinal atresia is the rarest form of multiple intestinal atresia with a presumed autosomal recessive mode of inheritance. Two consecutive male siblings were admitted due to non-bilious vomiting. A plain radiograph of the abdomen revealed a single air bubble and expanded stomach in both siblings. Barium contrast study showed unused colon in the first sibling. In the second sibling, barium contrast study indicated rectal obstruction. On laparotomy, there were multiple gastrointestinal atresia in both of them. No chromosomal abnormality was observed with cytogenetic studies. The parents were first cousins. Here, we present two siblings with hereditary multiple intestinal atresia born of close consanguineous marriage, and discussed possible etiopathogenesis.
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    Prevalence of Pericentric Inversion of Chromosome 9 in Eastern Anatolia Region and Relationship to Reproductive Efficiency
    (Kare Publ, 2018) Yuksel, Sengul; Savaci, Serap; Ekici, Cemal; Kurtoglu, Elcin Latife; Korkmaz, Selcen; Yesilada, Elif
    Objectives: One of the most common, structurally balanced chromosome rearrangements is the pericentric inversion of chromosome (inv[9]). It is considered to be a variant of the normal karyotype, and has been found in both normal populations and patients with various abnormal phenotypes. The aim of this study was to determine the frequency of chromosome 9 rearrangement in the Malatya Province and check whether it is correlated with certain diseases. Methods: In this study, we investigated the karyotype analysis of 4168 patients admitted in the Turgut Ozal Medical Center and Research Hospital, Genetic Disease Diagnosis Center Laboratory, between 2014 and 2016 and retrospectively reviewed their clinical data. Chromosomes from cultured peripheral blood lymphocytes were analyzed using Giemsa Trypsin-Giemsa (GTG) banding. Results: Pericentric inversion was detected in 71 (1.7 %) of 4168 cases, including 32 (45.1%) cases with inv(9) causing infertilty, 21 (29.6%) causing growth retardation, four (5.6%) causing multiple spontaneous abortion, and 14 (19.7%) causing other abnormalities, all of which were referred to our laboratory. Conclusion: In this study, the distribution of inv (9) in the Malatya Province was shown, and it is believed that these results would contribute to the knowledge regarding the incidence of inv (9) in the Eastern Anatolia Region and Turkey.