LABORATORY DIAGNOSIS OF CHROMOSOMAL DISORDERS
Abstract
Chromosomal disorders are genetic conditions caused by numerical or structural abnormalities in chromosomes. They represent a significant cause of congenital anomalies, developmental delay, intellectual disability, infertility, and pregnancy loss. Accurate laboratory diagnosis plays a crucial role in early detection, clinical management, genetic counseling, and prevention strategies. This article reviews the main laboratory methods used in the diagnosis of chromosomal disorders, including conventional cytogenetics, molecular cytogenetic techniques, and advanced genomic technologies.
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