Karyotyping and Down Syndrome: Insights from Cytogenetic Analysis and Patient Data

Abstract

Abstract: Down syndrome is one of the most commonly occurring chromosomal disorders, and in a rapidly growing population like India, cytogenetic evaluation is crucial for accurate diagnosis and medical intervention. Karyotyping remains the most relied upon cytogenetic analysis method due to its affordability and extensive experience. This paper provides an overview of Down syndrome, chromosomal aberrations, karyotype analysis, its requirements, and the processes involved. Additionally, it presents data collected in our laboratory over a year, facilitating data driven decision making. While Down syndrome has no cure, early detection through karyotyping enables better management and access to medical care, offering affected individuals the opportunity for a fulfilling life.