December 1977

The 2p Partial Trisomy Syndrome

Author Affiliations

Inland Empire Genetics Counseling Service Spokane, WA 99210
Departments of Medical Genetics, Medicine, and Pediatrics University of Washington School of Medicine Seattle, WA 98195

Am J Dis Child. 1977;131(12):1405-1406. doi:10.1001/archpedi.1977.02120250087020

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


Sir.—We are interested in the report by Drs Francke and Jones of the 2p partial trisomy syndrome (Am J Dis Child 130:1244, 1976) since we have also recently seen a family in which there is 2p partial trisomy. Our family is in the process of being reported, since there are five individuals in three generations who are trisomic for a portion of the short arm of chromosome 2 (2p23) and, probably, monosomic for a small portion of the long arm of chromosome 10 (10q26). Our patients are all quite similar to each other in that they have mental retardation, a beaked nose, carp-shaped mouth, a mongoloid slant to the eyes, cryptorchidism, and short stature.

We are concerned that by entitling their article "The 2p Partial Trisomy Syndrome," Francke and Jones are ignoring the fact that their patients may also be deficient in the long arm of chromosome 7. They

First Page Preview View Large
First page PDF preview
First page PDF preview