Dysplasias in Chromosome Disorders
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.
KeywordsDown Syndrome Club Foot Dentate Nucleus Lateral Geniculate Body Inferior Olivary Nucleus
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- Brun, A., Gustayson, K.-H.: Cerebral malformations in the XYY syndrome. Acta path. microbiol. scand. 80: 627–633, 1972.Google Scholar
- Crome, L., Cowie, V., Slayer, E.: A statistical note on cerebellar and brain stem weight in mongolism. J. ment. Defic. Res. 10: 69–72, 1966.Google Scholar
- Davidoff, L. M.: The brain in mongolian idiocy. Arch. Neurol. Psychiat. (Chic.) 20: 1229–1257, 1928.Google Scholar
- Down, J. L. H.: Observation on an ethnic classification of idiots. Clin. Lect. Reports London Hosp. 3: 259–262, 1866.Google Scholar
- Eggen, R. R.: Chromosome Diagnostics in Clinical Medicine. Springfield, Ill.: Ch. C Thomas 1965.Google Scholar
- Krivit, W., Good, R. A.: Simultaneous occurrence of mongolism and leukemia. Report of a nationwide survey. Amer. J. Dis. Child. 94: 289–293, 1957.Google Scholar
- Lejeune, J., Gauthier, M., Turpin, R.: Etude des chromosomes de neuf enfants mongoliens. C. R. Acad. Sci. (Paris) 248: 1721–1722, 1959.Google Scholar
- Meyer, A., Jones, T. B.: Histological changes in the brain in mongolism. J. ment. Sc. 85: 206–221, 1939.Google Scholar