A Case with Partial 9p Trisomy and Speech Impairment

Abstract

In this study, we aimed to discuss the relationships between his phenotypic anomalies and der(15), ish t(9; 15)(p12; q10) balanced reciprocal translocation entity that determined from 5 year old male child who referred to our laboratory for cytogenetic analysis. He has complaints speech impairment and growth retardation. And whose family has no phenotypic anomalies. After assessing the case's pedigree, the preparations obtained from case and relatives using peripheric blood culture method and evaluated with GTG banding. Cytogenetic analyses of her father and mother revealed normal karyotypes. We convinced that the balanced reciprocal translocation may be as a result of de novo mechanism. So, we discussed relationship between phenotypic anomalies and genetic characteristics of case in the light of the literature.