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clinical cytogenetics

Laboratory Techniques

Clinical Cytogenetics – Pt.2: A Study of Chromosomal Aberrations

Introduction Since the discovery of chromosomes, the cytogenetic field has evolved rapidly. The techniques have unfolded several hidden mysteries of chromosomes. And later, it gave rise to two branches: molecular and clinical cytogenetics. The studies in clinical cytogenetics suggested that the structural and numerical aberrations of chromosomes (autosomal and sex) are the cause of several abnormalities in human beings. For
Laboratory Techniques

Clinical Cytogenetics – Pt.1: A study of chromosomal aberrations

Introduction As we know, cytogenetics is the study of chromosomal structure and behavior by using different staining techniques. In the year 1962, Lejeune proved Waardenburg’s hypothesis (the cause of Down syndrome could be a chromosomal aberration) by reporting the first case of syndrome due to chromosomal aberrations. It was a major breakthrough in cytogenetics research. With the discovery of the