• Chromosomal abnormalities are the basis for a substantial proportion of human morbidity and mortality. During the past 35 years, the field of human cytogenetics has helped to elucidate the etiology of many congenital malformation/mental retardation syndromes. Through adaptation of technological advances and integration of molecular biological techniques, cytogenetics continues to contribute significantly to our knowledge of clinical genetics, chromosomal fine structure and function, gene mapping, and prenatal diagnosis. This review outlines the basic concepts, recent findings, and current laboratory approaches to cytogenetic diagnosis.
Cohen MM, Rosenblum-Vos LS, Prabhakar G. Human Cytogenetics: A Current Overview. Am J Dis Child. 1993;147(11):1159–1166. doi:10.1001/archpedi.1993.02160350033005
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