The New England Journal of Medicine
e-mail icon  FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |    Advanced Search
Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe
 
Original Article
Brief Report
PreviousPrevious
Volume 360:1211-1216 March 19, 2009 Number 12
NextNext

Genetic Compensation in a Human Genomic Disorder
Nadège Carelle-Calmels, Pharm.D., Ph.D., Pascale Saugier-Veber, Pharm.D., Ph.D., Françoise Girard-Lemaire, M.D., Gabrielle Rudolf, Ph.D., Bérénice Doray, M.D., Eric Guérin, Pharm.D., Ph.D., Pierre Kuhn, M.D., Mathilde Arrivé, B.S., Catherine Gilch, B.S., Evelyne Schmitt, B.S., Séverine Fehrenbach, B.S., Albert Schnebelen, M.D., Thierry Frébourg, M.D., Ph.D., and Elisabeth Flori, M.D.

 Sign up for free e-toc
 

This Article
-Full Text
- PDF
-PDA Full Text
-PowerPoint Slide Set
-Supplementary Material

Tools and Services
-Add to Personal Archive
-Add to Citation Manager
-Notify a Friend
-E-mail When Cited
-E-mail When Letters Appear

More Information
-PubMed Citation
SUMMARY

Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the DiGeorge syndrome. This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder.


Source Information

From the Departments of Cytogenetics (N.C.-C., F.G.-L., M.A., C.G., E.S., E.F.), Neurology (G.R.), Medical Genetics (B.D.), Biochemistry and Molecular Biology (E.G.), and Pediatrics (P.K.), Strasbourg University Hospital, Strasbourg; the Department of Genetics, Rouen University Hospital and University of Rouen, Rouen (P.S.-V., S.F., T.F.); and the Department of Pediatrics, Saverne Hospital, Saverne (A.S.) — all in France.

Address reprint requests to Dr. Flori at Service de Cytogénétique, Hôpital de Hautepierre, Ave. Molière, 67098 Strasbourg, France, or at elisabeth.flori{at}chru-strasbourg.fr.

Full Text of this Article



HOME  |  SUBSCRIBE  |  SEARCH  |  CURRENT ISSUE  |  PAST ISSUES  |  COLLECTIONS  |  PRIVACY  |  TERMS OF USE  |  HELP  |  beta.nejm.org

Comments and questions? Please contact us.

The New England Journal of Medicine is owned, published, and copyrighted © 2009 Massachusetts Medical Society. All rights reserved.