Abstract
The clinical manifestations of anomalies of autosomes, which affect all body cells, are more severe than those of sex chromosomes. Rather massive anomalies in sex chromosomes (e. g. monosomy or polysomy) cause comparatively slight derangements. Autosomal anomalies of that magnitude are incompatible with life. Trisomy is the maximum compatible anomaly of one whole autosome. Moreover, the severity of the malformations with trisomies of the chromosomes 13, 18 and 21 decreases with the size of the chromosomes, probably reflecting the “dosage” of abnormal genetic information. No whole chromosome anomalies have been observed for the large autosomes. (For a survey see de Grouchy and Turleau 1977.)
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© 1989 Springer-Verlag Berlin Heidelberg
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Friede, R.L. (1989). Dysplasias in Chromosome Anomalies. In: Developmental Neuropathology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-73697-1_31
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DOI: https://doi.org/10.1007/978-3-642-73697-1_31
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