PMID: 14018845Mar 2, 1963Paper

Chromosomal abnormalities and their relation to disease

Canadian Medical Association Journal


When human chromosome anomalies were first described in 1959, it appeared that specific abnormalities might be correlated with specific syndromes. Mongolism and the D and E syndromes are examples of specific syndromes associated with the presence of an extra autosome. Klinefelter's syndrome may be associated with a variety of different sex chromosome anomalies including XXY, XXYY, XXXY and XXXXY. The lastnamed variant is the only one that frequently presents features distinguishing it from the others. An XO sex chromosome complex is found in many women with gonadal dysgenesis. However, a variety of mosaicisms have been described in association with this condition, including XO/XX, XO/XXX, XO/XX/XXX, XO/XY and XO/XYY. Extra X chromosomes in phenotypical females do not seem to impair fertility or be consistently associated with congenital anomalies. Two families are described in which chromosome anomalies were found, but the association with defects was irregular. In one family the abnormality involved one of the number 16 chromosomes and in the other it involved one of the small acrocentric chromosomes.


Sep 1, 1971·Journal of Medical Genetics·J Chemke, A Robinson
Mar 1, 1969·Journal of Medical Genetics·J A Wilson
Sep 1, 1965·British Heart Journal·J M AndersR Emanuel
May 1, 1967·Journal of the Neurological Sciences·J François
Jun 6, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Amy A BlumlingSharron Close

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