Article |

Possible Autosomal Isochromosome in a Malformed Child

Am J Dis Child. 1966;111(3):327-332. doi:10.1001/archpedi.1966.02090060137022.
Text Size: A A A
Published online

A CHROMOSOMAL aberration that has not been previously reported was encountered during study of an 8-year-old Caucasian girl with multiple developmental anomalies and mental retardation. Her chromosome complement included an extra small metacentric chromosome with satellites on both ends, presumably an autosomal isochromosome. Isochromosomes have heretofore been described for the long arm of the X chromosome1-3 and more recently for the long arm of a 17-18 chromosome.4 Small metacentric chromosomes5,6 have been reported by several authors, and these may represent short arm isochromosomes. The D/D7 and G/G8,9 translocations may be alternately interpreted as isochromosomes for the long arm of one of the D (13-15) and G (21-22) chromosomes, respectively.

It is well recognized that excess genetic material may exist in viable human cells and that this extra material may be associated with various stigmata. At present, there are only three established autosomal trisomies in man:


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

First Page Preview

View Large
First page PDF preview





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.
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


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.