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April 9, 1997

Fragile X Syndrome: Diagnosis, Treatment, and Research

Author Affiliations

Lincoln, Neb

JAMA. 1997;277(14):1169. doi:10.1001/jama.1997.03540380083039

Human cytogenetics is about 40 years old. I find it intriguing when people can watch the evolution of significant life events. My grandmother, in her 90s, can tell about the evolution of aircraft, from the Wright Brothers to the present. Human cytogenetics isn't as significant as the discovery of flight—or is it? Cytogenetics is a major part of the foundation for our understanding of many aspects of clinical medicine, molecular genetics, and the Human Genome Project. In the fall of 1997, the American Medical Association is planning a major conference on genetic medicine because fewer than one in 10 physicians have confidence in their ability to provide genetic counseling.

Fragile X syndrome (FXS) is just one of several X-linked mental retardation (XLMR) syndromes. The finding of a cytogenetic abnormality in an XLMR syndrome and thus the syndrome's name, occurred in 1969. My career in cytogenetics began in 1974. Thus, except

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