0
Article |

Atlas des maladies chromosomiques

LYTT I. GARDNER, MD
Am J Dis Child. 1983;137(6):606. doi:10.1001/archpedi.1983.02140320082027.
Text Size: A A A
Published online

ABSTRACT

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

Topics

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

Figures

Tables

References

Correspondence

CME
Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Jobs
brightcove.createExperiences();