Dysplasias in Chromosome Disorders

  • Reinhard L. Friede


The clinical expressions of anomalies of autosomes, which affect all body cells, are generally more severe than those of the sex chromosomes. Rather massive anomalies in the number of a sex chromosome, such as monosomy or polysomy, may be accompanied with comparatively slight derangements. Anomalies of that degree are incompatible with life for autosomes, and trisomy is the maximum degree of anomaly of one whole autosome in viable patients. Moreover, no whole chromosome anomalies have been observed for the larger autosomes (1–12), as these appear to be incompatible with life. The extent and severity of the malformations observed for trisomies of the chromosome groups 13–15, 17–18 and 21 decreases with the size of the chromosomes involved, probably reflecting the “dosage” of abnormal genetic information. The reviews of Eggen (1965), Joppich and Schulte (1968), and Warkany et al. (1966) may be consulted for general surveys. Malformations of the CNS have been observed with a great variety of chromosomal anomalies; the present chapter covers only the more common syndromes.


Down Syndrome Club Foot Dentate Nucleus Lateral Geniculate Body Inferior Olivary Nucleus 
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Copyright information

© Springer-Verlag Wien 1975

Authors and Affiliations

  • Reinhard L. Friede
    • 1
    • 2
  1. 1.Case Western Reserve UniversityClevelandUSA
  2. 2.University of ZurichSwitzerland

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