Akademik Veri Yönetim Sistemi
6. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 16 - 18 Eylül 2021, cilt.33, sa.1, ss.36
The Emanuel syndrome is a chromosomal disorder characterized by partial duplication of chromosomes 11 and 22, or supernumerary der(22) t(11;22). It is an unbalanced translocation syndrome, usually resulting from 3:1 meiosis I malsegregation during gametogenesis. Der(22) usually occurs as a result of a balanced reciprocal translocation inherited from the parents. Clinical features of the disease include growth retardation, microcephaly, severe intellectual disability and cardiac anomalies. A four-year and eight-month-old female patient was referred to our clinic from pediatric neurology due to microcephaly, hypotonia and choreoathetotic movements. Her weight was 11kg (< third percentile), length was 100 cm (< tenth percentile), head circumference was 43 cm (< third percentile). Her physical examination revealed mental retardation, arachnodacty, upslanting palpebral fissure, and narrow forehead. Echocardiography displayed the patent ductus arteriosus and minimal mitral regurgitation. As a result of the karyotype analysis performed with the patient's peripheral blood sample, 47,XX,+marker chromosomal anomaly was detected. Chromosomal microarray analysis was performed on the patient to investigate the origin of the marker chromosome. Microarray revealed a duplication of 18.3 MB in the terminal region of the long arm of chromosome 11 and 3.8 Mb in the long arm of chromosome 22. The karyotype analyzes of accomplished her parents were performed and a balanced reciprocal translocation was detected in the phenotypically normal her mother as 46,XX,t(11;22)(q23.3;q11.2). The aim of this study was to show that the use of cytogenetic and molecular cytogenetic analyses together plays an important role in uncovering the etiology of the derivative chromosome.