Bhawna Thakur1*, Jyotsna Singh2 and Kanchan Kapoor2
1Department of Anatomy, Maharishi Markandeshwar Medical College and Hospital, Solan, India
2Department of Anatomy, Government Medical College and Hospital, Chandigarh, India
*Correspondence to: Bhawna Thakur, Department of Anatomy, Maharishi Markandeshwar Medical College & Hospital, Solan, India
Received: Dec 16, 2024; Accepted: Dec 27, 2024; Published: Dec 31, 2024
Citation: Thakur B, Singh J, Kapoor K (2024) Mosaic Turner Syndrome – A Case Report. J Anatomical Variation and Clinical Case Report 2:114. DOI: https://doi.org/10.61309/javccr.1000114
Copyright: ©2024 Thakur B. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
ABSTRACT
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.
Keywords: Mosaicism; Turner syndrome; Mosaic turner syndrome; Karyotype; Chromosome; Aneuploidy
Figure : Enlarged genital tubercle.
