The Urea Cycle
نویسنده
چکیده
Convention terminology. There follows a compilation of numerical abnormalities of chromosome constitution, again in order 1 to 22, X and Y. There is a table of syndromes associated with breakage syndromes. Associations of chromosome anomalies and cancer cell lines have been excluded. The preface contains seven tables, listing chromosome involved in polymorphisms, breakage, and aneuploidy syndromes. This catalogue will be useful for working clinical geneticists who are familiar with the Paris Convention terminology, both clinicians and investigators. Its major usefulness will be in the situation when a structural or numerical anomaly has been identified and a review of the relevant literature is desired. It would be cumbersome to try to use it to find out whether a given clinical syndrome, for example acrocephalosyndactyly, is associated with a chromosomal abnormality unless one knows to look in the section covering chromosome six. The index contains only 31 syndromes cross-referenced, in contract to 30 pages of cross-reference to author's names. A subject index with cross-references to clinical syndromes, familial incidence, infertility, and fetal wastage would make the book far more useful. It will be of limited usefulness to students, house officers, and practicing clinicians, who will find the atlas written by deGrouchy far more useful.
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ورودعنوان ژورنال:
- The Yale Journal of Biology and Medicine
دوره 51 شماره
صفحات -
تاریخ انتشار 1978