ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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A Rare Translocation In A Patient With Adult Type Polycystic Renal Disease: 46,xx T(3;5) (p26::q13), Der(5) (pter→q13): A Case Report
Dr. Hüseyin YÜCE,a Dr. Ülkü ÖZBEY,a Dr. Gülay GÜLEÇ CEYLAN,a Dr. Halit ELVASa
aTıbbi Biyoloji ve Genetik ABD, Fırat Üniversitesi Tıp Fakültesi, ELAZIĞ
Adult type polycystic renal disease (APKD) is an autosomal dominant disease with cardinal symptoms like renal cysts, liver cysts and intracranial aneurysms. The aim of this study was to do pedigree analysis on the inheritance model of this disease and to emphasize the genetic counselling process in APKD. The conventional cytogenetic analysis of the patient revealed a karyotype of 46,XX, t(3;5)(p26: :q13), der(5)(pter→q13). To our knowledge, this is the first case reported in the literature that was analyzed for APKD and determined to be t(3;5) cytogenetically. We suggest that the karyotype determined in the case with APKD may be a contributing factor for the ethiopathogenesis of the disease.Keywords: Polycystic kidney, autosomal dominant; chromosome aberrations; phenotypeTurkiye Klinikleri J Med Sci 2007, 27:622-625
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