A case with de novo x;autosome translocation [De Novo X;Otozom Translokasyonlu Bi?r Olgu]

Abstract

Introduction: In this study, we evaluated the relationships between phenotypic anomalies and the t(X;6)(q25;ql6) balanced reciprocal translocation in a women case who referred to our laboratory due to having complaints of primer amenorrhea and growth retardation. And the members of her family have no phenotypic anomaly. Material and methods: After assessing the case's pedigree, the preparations obtained from case and relatives using peripheric blood culture method and evaluated with GTG banding. Findings: Cytogenetic analysis of the case who referred to our laboratory due to determined primer amenorrhea and growth retardation showed a balanced reciprocal translocation (46,XX, t(X;6)(q25;q16)). Cytogenetic analyses of her father, mother and four siblings revealed normal karyotypes. Results: In this study, we discussed the relationship between phenotypic anomalies and genetic characteristics of case.