Abstract
Within the past 15 years, the rapid progress in human cytogenetics has resulted not only in the delineation of a wide variety of syndromes, but also in the demonstration of a causal relationship between various chromosomal abnormalities and phenotypic manifestations. Multiple congenital abnormalities and mental retardation are an almost consistent finding in individuals with autosomal unbalanced aberrations and to a lesser frequency and degree in individuals with sex chromosomal abnormalities.
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Hsu, L.Y.F., Hirschhorn, K. (1977). Numerical and Structural Chromosome Abnormalities. In: Wilson, J.G., Fraser, F.C. (eds) Handbook of Teratology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8933-4_3
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