Abstract
The demonstration of the normal human chromosomal complement by Tjio and Levan in 1956(1) opened a new field of human genetics, i.e., Cytogenetics. (A normal male karyotype, 46,XY,* is shown in Fig. 1.) The rapid progress in human Cytogenetics during the past 15 years has resulted not only in delineation of a wide variety of syndromes but also in demonstration of the causal relationship between various chromosomal abnormalities and phenotypic manifestations. Mental retardation is a constant and obvious finding in all autosomal unbalanced aberrations. In sex chromosome aberrations, mental deficiency, although frequently found in individuals with greater than normal numbers of X or Y chromosomes, occurs to a lesser degree than in autosomal aberrations. This difference is now understandable on the basis that only one X chromosome is genetically active in somatic cells and any extra X chromosome material in excess of one is inactivated during early life.(2)
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References
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Hsu, L.Y.F., Hirschhorn, K. (1973). Cytogenetic Aspects of Brain Dysfunction. In: Gaull, G.E. (eds) Biology of Brain Dysfunction. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-2667-0_3
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