Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report

Abstract

Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counselor, all family members underwent karyotype analysis, which detected ROB translocation t(13;14) in father of the family. The simultaneous occurrence of ROB translocation and Turner syndrome is a rare phenomenon and affects the individual’s life, for instance, reduced fertility. Therefore, cytogenetic study is recommended in cases with abnormally short stature in order to manage their health before any treatment procedure

Keywords

• Short stature
• Karyotype
• Robertsonian translocation
• Turner syndrome.