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Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News, September 1992
Important information accumulated worldwide in the 30-year history of clinical cytogenetics is accessible through two online databases maintained at the University of Delaware by Digamber Borgaonkar and his colleagues. These databases, organized by chromosomal abnormality according to structural and numerical aberrations, briefly describe the reported anomaly; the catalog database also gives bibliographic citations. Both databases are available in print form, as noted below.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Abnormalities is a bibliographic database of previously karyotyped cases collected from published literature. Data are entered or updated daily. Because it identifies the chromosome breakpoint and quotes the Mendelian disorder, this catalog is particularly useful to gene mappers. The print version (sixth edition, 1991) is available through book stores or from Wiley/Liss; 605 Third Avenue; New York, NY 10158-0012; 800/225-5945 or 908/469-4400; Fax: 908/302-2300; Telex: 833434.
Repository of Human Chromosomal Variants and Anomalies/International Registry of Abnormal Karyotypes contains personally communicated, unpublished case histories from over 300 contributors in 33 countries. Data are entered at systematic intervals as needed. Clinical cytogenetics laboratories find this repository useful for studies of karyotype-phenotype relationships, rare anomaly searches, and accumulation of a large number of cases or families for a study. The print version (13th Listing, 1990) is available for $25 from the author at the address below. The 14th Listing is expected before the end of 1992.
For information, or to request a database printout, contact Digamber Borgaonkar; Medical Center of Delaware; Cytogenetics Laboratory; 4755 Ogletown-Stanton Road; P.O. Box 6001; Newark, DE 19718; 302/733-3350; Fax: -3773; Internet: fag22015@udelvm.udel.edu.
HGMIS Staff
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v4n3).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.
