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Cover of Chromosomal Variation in Man

Chromosomal Variation in Man

A Catalog of Chromosomal Variants and Anomalies

Online NLM Version


Special Volunteer, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland; Director (Retired), Cytogenetics Laboratory, Dr. Margaret I. Handy Chair in Human Genetics, Christiana Care Health System (formerly Medical Center of Delaware), Newark, Delaware; Formerly Adjunct Professor, School of Life and Health Sciences, University of Delaware; and Formerly Research Professor in Genetics, Thomas Jefferson University

I was fortunate to have had the idea, that led to this book, at the right time and at the right place! During the first half of 1974, while I was, on the faculty of the Johns Hopkins University School of Medicine, in Baltimore, I was a Visiting Fellow at Yale University, in New Haven. I was discussing the use of chromosomally abnormal human cell lines for regional assignment of loc in somatic cell hybridization (see, e.g., Borgaonkar e al, 1973; Borgaonkar et al, 1977; Denney, Borgaonkar, and Ruddle, 1978, and questions arose about what material was available and how that information should be stored. A systematic compilation of chromosomally abnormal material was necessary. The idea to computerize information on abnormal karyotypes in an organized fashion, which could then be retrieved to compile a Catalog, was conceived during the discussions I held with my then colleagues at both Yale and Johns Hopkins [Borgaonkar, Bolling, Partridge, Ruddle, and McKusick, 1975]. Significant improvements and changes have been made since then, partly because of my discussions with colleagues during the last 3 decades.

I believe the Atma (A Sanskrit word meaning, roughly, the immortal soul or spirit) of the Catalog is in the methodology of organization, its simplicity of use, and the ease and economy with which it can be updated. The speed with which these nine editions have been prepared provides not only gratifying proof that the Catalog embodies these characteristics but also demonstrated that up-to-date editions can be and are promptly prepared.

The first section of the Catalog, which is necessarily a major component because of the amount and nature of the material available, is concerned with structural chromosmal variations and anomalies such as deletions, inversions, and translocations. Entries in the Catalog are listed according to the chromosome break points. The first two columns of the entry refer to the chromosome (01 to 22, 0X and 0Y); the third column refer to the chromosome arms (p and q); and the fourth and fifth columns of the entry number refer to the region and band, respectively. Whenever information corresponding to the latter three columns is not available, a 0 is entered in the appropriate column. If and when further information for such an entry becomes available, the revised information can easily be substituted. Following the International System for Human Cytogenic Nomenclature [ISCN, 2005] recommendations whenever a band is subdivided into units, I have entered the information accordingly in the sixth and seventh columns; e.g. 06p2105 implies a break halfway in the band 06p21. Alternatively, if information is available on sub-band it is entered in the sixth column; if not, a 0 is entered.

Thus, the first autosome item encoded is 010000 and the last is 22q1333. In other words, the minimal information required for a report to be included in this section of the Catalog is that the chromosome involved in the production of the variation or anomaly be known. If an entry is cited under a specific band, generally it is because the authors of the report used at least one of the banding techniques to enable them to designate the break point. Under each category, all the reports are listed alphabetically according to the last name of the first author. The bibliographic citation is followed by chromosome constitution(s) of the individual(s) reported. When available, to avoid possible confusion arising from multiple reporting of the same case, the subjects are identified by their case numbers. I would urge those who collate data to give due consideration to this matter. Some rare translocations and inversions, when reported without citation to an earlier published report have created an erroneous impression that there are many such cases and therefore, breakpoints at those chromosome sites.


First edition published by The John Hopkins University Press, Baltimore and London, 1975

Second edition published by Alan R. Liss, Inc., New York, 1977

Third edition published by Alan R. Liss, Inc., New York, 1980

Fourth edition published by Alan R. Liss, Inc., New York, 1984

Fifth edition published by Alan R. Liss, Inc., New York, 1989

Sixth edition published by Wiley-Liss, Inc., New York, 1991

Seventh edition published by Wiley-Liss, Inc., New York, 1994

Eight edition published by Wiley-Liss, Inc., New York, 1997

The data for this edition was extracted from the on-line dataset maintained at the website in 2011.

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105441PMID: 23057093


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