Mosaic Turner Syndrome – A Case Report

Mosaic Turner Syndrome is a chromosomal disorder characterized by the presence of two or more different cell lines, typically involving a mixture of normal (46,XX) and abnormal (45,X) karyotypes. This condition affects approximately 1 in 2,500 live female births worldwide. Unlike the classic form of TS, which presents with a uniform 45, X karyotype, Mosaic Turner Syndrome exhibits a mosaic pattern that can result in a wide spectrum of clinical manifestations. Fetus with Mosaic Turner Syndrome may exhibit a range of phenotypic features, including cystic hygroma, congenital heart defects, and growth disorders. The variability in clinical presentation underscores the importance of comprehensive prenatal evaluation and monitoring. Early detection and intervention can significantly improve outcomes and provide valuable insights into the natural history and progression of the syndrome. The objective of the present study was to study a rare mutation associated with sex chromosome aneuploidy and mosaicism of Y chromosome. By examining case study and current research, we seek to enhance our understanding of this complex condition and contribute to the development of effective prenatal management strategies.