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Genetic Mechanisms in Human Disease: Chromosomal Aberrations

C. C. Li, M.D.
JAMA. 1962;181(5):455. doi:10.1001/jama.1962.03050310095025.
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Since the historic finding of Tjio and Levan (1956) that the human somatic cell normally has 23 pairs of chromosomes, the studies and reports on human cytogenetics have increased by leaps and bounds. These studies have been promptly rewarded by the discoveries of sex chromosomal aberrations resulting in intersexuality and of an autosomal trisomic condition resulting in mongolism. These and many other discoveries are directly responsible for the "explosion" in cytogenetic research in medical circles. Pertinent literature appears everywhere: in journals of medicine, pediatrics, obstetrics, genecology, and urology, as well as genetics and cytology.

The volume under review is a collection of published material, mostly of the years 1959 and 1960, bearing on human chromosomal aberrations and diseases. It includes 55 papers by 112 authors. It also contains a bibliography of publications during 1956 through 1960, reprinted from The Human Chromosome Newsletter, no. 3, and some supplementary references up to


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