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January 17, 1972

Clinical Cytogenetics

Author Affiliations

Harvard Medical School Boston

JAMA. 1972;219(3):389-390. doi:10.1001/jama.1972.03190290075034

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This text provides the reader with an exhaustive coverage of the human cytogenetics literature. Notwithstanding its comprehensive nature, it is couched in very elementary language. All subjects are approached with a simplicity that demands little previous knowledge on the reader's part.

The first 90 pages provide background information on cell division, the postulated mechanisms producing chromosome disorders, and detailed descriptions of sex chromatin (the Barr body) and its neutrophilic equivalent (the drumstick). Most of the remaining pages are devoted to a remarkably exhaustive listing of the clinical features associated with various chromosome disorders. The incredibly comprehensive nature of this coverage is attested by the more than 1,600 literature citations in the bibliography. There are many lengthy, but highly readable tables in which the clinical findings associated with each major variety of chromosome lesion have been assembled. Given a specific cytologic abnormality, it is a simple matter to locate what has