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Abstract

July - September 2024 | Vol. 17 | Issue 3 | 03-14
Mosaicism in Clinical Genetics: Counselling Challenges and Diagnostic Dilemmas
Haseena Sait
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, India
Address for Correspondence Email: hasi.flower@gmail.com
 
Abstract
Mosaicism involves the presence of more than one genetically distinct cell line within a single organism, contributing to a range of pathologies from chromosomal disorders to various cancers. In clinical practice, mosaicism presents significant challenges, from suspicion to detection. Equally complex is the process of genetic counselling for mosaic disorders. This review focuses specifically on non-oncological conditions related to mosaicism. It outlines the clinical classification, mechanisms, and common presentations of mosaic conditions. Additionally, the article provides an overview of mosaicism in different clinical settings, including various diagnostic techniques and the uncertainties and challenges in genetic counselling related to mosaicism.
 
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