Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

نویسنده

  • Leon E. Rosenberg
چکیده

chapter, presentation consists of an unabating recitation in chronological order of the salient points from each one of the cited references. Unbearable repetition, absence of a logical flow of ideas and difficulty extracting the most significant concepts results. The autlhor provides essentially no integration or summarization of h1is material. Critical analysis of the data and conclusions are conspicuously lacking. Equal weight is given to early and more recent work, although it is clear that diagnostic shortcomings in the preelectrophoretic era cast doubt on the relevance and validity of some of the early findings. Data on tlle incidence of various patlhological findings andl clinical complications have been largely omittedl. Confusing and antiquated terminology creeps into the text, e.g., erythro-blastic anemia for tlhalassemia. The chapters on the genetic and biochemical basis of the disease are especially weak, suffering from occasional factual error, lack of any depth, andl a jumbled, oversimplified, naive presentation. Tlhis book may serve a reference function for the researcher, pathologist, ancl hematologist, but it is not recommended for the education of medical students, houise officers or practitioners. (lemnoinstration of the rapid growth of the field of medical genetics. Tlle first edi-tioin, ptlblislhe(l in 1967, comprisedl 314 pages and listed 1487 Mendelian traits (837 autosomal dominant; 531 autosomal recessive; and 119 X-linked). This edition reqtuires 738 pages to describe 1876 traits (943 autosomal dominaint; 783 autosomal recessive; 150 X-linkecl). Thle most impressive increase lhas been in the aLltosomal recessive category, reflecting in large measture the impressive advances in biochemical genetics in recent years. Each entry consists of tlhree parts: a preferred (lesigniation-or title, a brief description of the phenotype emrphasizing thc genetic informationi, andl several key references. Entries from previous editions lhave been updlated by modifying the phenotypic description, by adding new references, and, in some cases, by (leleting older ones. In addition to cataloging the known MIendelian traits, this edition contains new and valuable tabulations of selected topics: hereditary deafness, hand malformations, skeletal disorders, enzymopathies, linkages, and proteins showing genetically determined structural variations. The computer printout format, which has been invaluable in keeping this volume current, provides the reader with a sense of timeliness and speed in keeping with the purpose of this book. This volume, which has rapidly become

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عنوان ژورنال:
  • The Yale Journal of Biology and Medicine

دوره 45  شماره 

صفحات  -

تاریخ انتشار 1972