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Öğe Cytogenetic and clinical features of a 13 year old male with trisomy 8(Georg Thieme Verlag Kg, 2012) Balkan, Mahmut; Fidanboy, Mehmet; Ozmen, Cihan; Ozbek, M. Nuri; Otcu, Selcuk; Kapi, Emin; Budak, TurgayTrisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with trisomy 8 mosaicism are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems. Our results are in agreement with those of previous studies for trisomy 8.Öğe A rare cause of severe dyspareunia: a case report and literature review(Springer Heidelberg, 2010) Akbulut, Sami; Cakabay, Bahri; Sezgin, Arsenal; Ozmen, CihanGastrointestinal stromal tumors (GISTs) of the rectum are rare, and their clinical manifestations are variable. We report the case of a 23-year-old woman who was referred complaining of dyspareunia during coitus. We performed digital vaginal and rectal investigations, ultrasound, colonoscopy, and computed tomography. These examinations confirmed the presence of a lesion measuring about 6 x 5 x 5 cm in size attached to the posterolateral left rectum wall. We performed a circumanal excision, then arrived at the mass between the muscles of the pelvic floor. Pathological studies indicated that the tumor was a high-grade GIST, and was clear at the surgical margins. On follow-up, a GIST was found at the gastric fundus via an endoscopic biopsy. Imatinib treatment was initiated because the patient refused a second operation. The gastric lesion disappeared 6 months after imatinib treatment. Dyspareunia disappeared 1 month after operation.