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

Baltimore: The Johns Hopkins Press, 1966. First edition.

SCARCE FIRST AND LAST PRINTED EDITIONS OF McKUSICK'S MAGNUM OPUS: 12-FOLD INCREASE IN PAGES OVER 32 YEARS (1966-1998).

FIRST EDITION, 24.5 x 16.5 x 2 cm hardcover, ivory Holliston Blubak polyester-covered binding, printed rows of X's wrapping around covers and spine (X chromosomes), title to cover and spine, typeface IBM Printout and News Gothic; i-xvii, [1], 344 pp. Light browning to spine, institutional library handstamps to front and rear paste-down, bottom of title page, no other library marks. Bindings tight, pages clean, and appear unread. Very good copy of the scarce first printing in custom archival mylar cover. TWELFTH EDITION, first printing: Three hardcover volumes, each 28.5 x 21.5 cm, total 18 cm thick, forest green binding, with the same design as the first edition. Vol. 1, i-cccixv, 1-526 pp; Vol. 2, i-xii, 1930 pp; Vol. 3, i-xii, pp [1931] - 3612. Very good. GARRISON-MORTON No. 14202. McKUSICK, Victor Almon (1921 - 2008) Mendelian inheritance in man; catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Baltimore, MD: The Johns Hopkins University Press, 1966. Last expanded printed edition: 12th edition, 3 vols., 1998.

VICTOR ALMON McKUSICK (1921 - 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is widely known as the "father of medical genetics". Dr McKusick wrote an article in 1962 for the Quarterly Review of Biology titled 'On the X Chromosome of Man'. At that time, X-linkage had been established for about 60 traits in man and a genetic map of the X chromosome was presented. Four years later, with the addition of dominant and recessive traits, Dr McKusick published a book, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes (MIM).

MENDELIAN INHERITANCE IN MAN was originally authored by McKusick, and he remained its chief editor through 12 editions. He also served as the chief editor of its online successor, Online Mendelian Inheritance in Man (OMIM) until his death. The first edition of MIM was published in 1966, and the last printed (12th edition) was published in 1998. The first edition had 1400 entries and no mapped autosomal loci. Each catalogue contained summaries of genetic phenotypes reported in the biomedical literature, which were organized into numbered entries with descriptive synopses and references. With the addition of descriptions of genes, the focus of MIM became the relationship between phenotypes and genes. Over the years, catalogues for Y-linked and mitochondrial phenotypes and genes were added and by the 12th edition, the subtitle had been changed to 'A Catalog of Human Genes and Genetic Disorders'. Today the online version contains over 25,000 entries. It continues with the same basic organization but has grown to include complex traits and descriptions of the consequences of gene copy number variation and recurrent deletions/microdeletions and duplications/microduplications.--Joanna Amberger, Nucleic Acids Research, 2009.