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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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On the Use of the Catalog

Read not to contradict and confute, nor to believe and take for granted, but to weigh and consider. – Francis Bacon (1561 – 1616)

In the Catalog, the entry numbers are arranged numerically. The first two digits refer to the chromosome numbers, the third digit to the chromosome arm, the fourth digit to the region, and the fifth to the band according to the conventions recommended in the ISCN [1995]. If a band has been subdivided into units, the information has been entered as sixth, seventh, and eight digits. Alternatively, if a band has been subdivided into sub-bands, then such information is recorded in the sixth, seventh and eight units.

There are certain modifications in style because of computer usage. Special characters from foreign languages, such as French accents, the German umlaut, etc., could not be reproduced. Often, the reports do not provide critical photographs of karyotypes, and in many instances those that are given are not of good quality. Such reports cannot be subjected to reinterpretation of the karyotypic data. As many experienced cytogeneticists already know, microscopic observation is best for interpretation, and good microphotographs are barely adequate substitutes. By the time the karyotypes are published, however, they often have undergone two more reproductions, and critical details may be obscured. Therefore, in many instances, it may become necessary to accept the author’s interpretation of the karyotypes rather than try to reinterpret the published report.

Partial trisomies or monosomies resulting from structural anomalies are not listed in the section on Numerical Anomalies but they are, of course, listed appropriately in the first section at the site of breakage on the chromosomes.

The terminology used in the description of a report is adapted from that of the ISCN [2005] and its predecessors, and abbreviations used are from the same source – e.g., der = derived, mat = material, pat = paternal, mos = mosaic. Other abbreviations used elsewhere in the catalog are commonly used abbreviations such as MCA/MR=multiple congenital anomalies/mental retardation, and PWCR – Prader Willi critical region.

When authors of a report have used the abbreviated nomenclature such as t(2p−;7p+) in the description of a translocation, then such a report is cited in the appropriate site of break as judged from the data provided. For example, the citation for a translocation described as t(2p−;7p+) might be found under 02p100 (or 02p200) and 07p100 (or 07p200), rather than under 02p000 and 07p000, respectively.

In the Preface, mention was made of the danger that published information rapidly becomes outdated. The Catalog and Repository chromosome data bases are only a first step toward making the information uniformly available. Obtaining, information from our on-line data bank directly through a computer is a faster way of distributing such data, hence the connections to the web page. Editing and updating was done similarly.

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106294


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