A Marfan Syndrome Case of 46,XY,(8;20)(q2;q13) Chromosome Structure

• Main Authors: Diclehan Oral, M Nail Alp, Alpaslan Kemal Tuzcu, Hilmi İsi
• Format: Article
• Language: English
• Published: Dicle University Medical School 2006-01-01
• Series: Dicle Medical Journal
• Subjects: Marfan Syndrome; Karyotype; Translocation
• Online Access: http://4181.indexcopernicus.com/fulltxt.php?ICID=888011

The Marfan syndrome is an inherited, autosomal dominant disorder that affects the skeletal, ocular and cardiovascular systems. The patient had clinical diagnosis of Marfan syndrome in the Department of Endocrinology. Chromosome analysis was performed on a case referred to Genetic Laboratory of Medical Biology Department with pre-diagnosis of Marfan syndrome. For chromosome analysis, peripheral blood culture was performed. The preparates were stained by Giemsa Technique (GTG), and 25 cells were counted. Twenty metaphase chromosomes were karyotyped, and 46,XY,t(8;20)(q2;q13) karyotype was identified in the case . As a result of analysis, his parents were found to have normal karyotype, thus, it was concluded that the translocation in our case is de novo.