This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
A major reference work that first appeared in 1966 has been published in its tenth edition. For the first time, the book appears in two volumes. Volume 1 consists of introductory material (219 pages) and 1170 pages dealing with autosomal dominant inheritance. Volume 2 covers autosomal recessive and X-linked phenotypes (814 pages) and includes an extensive author and subject index (216 pages).
McKusick and his colleagues, Francomano and Antonarakis, list all traits and diseases transmitted by single-gene inheritance. McKusick's catalog is integrated with the Genome Data Base. While GDB deals with gene mapping, DNA markers, and probe availability, McKusick's catalog and its frequently updated computerized version (OMIM—Online Mendelian Inheritance in Man—via Sprintnet or Internet, part of the Welch Medical Library, Johns Hopkins University, telephone  955-7058) provide information on clinical and phenotypic aspects and mapping of expressed genes.
The number of entries keeps growing exponentially. During the last four years
Motulsky AG. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. JAMA. 1993;269(15):2003–2004. doi:10.1001/jama.1993.03500150115041
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: