This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
With the advent of the new banding techniques in human cytogenetics, it has become possible to detect small changes in the human karyotype that can be related to specific phenotypic manifestations. These new syndromes have been described with increasing frequency in the literature, and the permutations of physical findings in clinical diagnosis have been increased accordingly. Fortunately, the spirit of Diderot and the French encyclopedists is not dead; Jean de Grouchy and Catherine Turleau have produced in Paris, in 1982, a magnificent atlas of chromosomal abnormalities. They describe, with the use of clinical notes, illustrations, and karyotypes, the principal cytogenetic syndromes, including the known partial trisomies, monosomies, ring chromosomes, polysomies, and polyploidies, to date.
In each section, the authors correlate cytogenetic data with the latest available assignments of loci on the gene map. As an example of the detail in this book, in the section on chromosome 1, three different
GARDNER LI. Atlas des maladies chromosomiques. Am J Dis Child. 1983;137(6):606. doi:10.1001/archpedi.1983.02140320082027
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: