The Genetic Revolution. Scientific Prospects and Public Perceptions
نویسنده
چکیده
the variable expression in families. Of note, however, in the fact that the identification of the defect at the molecular level, recently published by Sherman and others, has made much of the molecular marker information presented here obsolete. Many of the confusing aspects of the reported pedigrees can now be explained by the observation of a variable number of CGG repeats at the fragile X locus, an observation that has rendered the inferential molecular studies and cytogenetic methods obsolete for family studies, and nearly so for diagnostic purposes. The contributions on cancer cytogenetics are interesting, though limited. The review by Sandberg was up to date in 1989, and the reader would find it helpful, though supplemental reading must be done to update it further. There are a number of well-reproduced karyotypes which provide examples of cytogenetic abnormalities. Wolman provides a nice review paper. The clinical and epidemiological information is still applicable, but the rest of the fragile X contributions now have limited value since the publication of the molecular definition of the syndrome. The book will therefore be of use to specialists interested in the background and history, readers who want clinical details, and those interested in cancer cytogenetics. It will be of less use to students, generalists, and those interested in the latest advances in our understanding of fragile X.
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عنوان ژورنال:
- The Yale Journal of Biology and Medicine
دوره 65 شماره
صفحات -
تاریخ انتشار 1992