How to Cite this Article: Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID. 2012. Germline Mosaicism in Cornelia de Lange syndrome. Am J Med Genet Part A. 158A:1481–1485.
Article first published online: 11 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1481–1485, June 2012
How to Cite
Slavin, T. P., Lazebnik, N., Clark, D. M., Vengoechea, J., Cohen, L., Kaur, M., Konczal, L., Crowe, C. A., Corteville, J. E., Nowaczyk, M. J., Byrne, J. L., Jackson, L. G. and Krantz, I. D. (2012), Germline mosaicism in Cornelia de Lange syndrome. Am. J. Med. Genet., 158A: 1481–1485. doi: 10.1002/ajmg.a.35381
The authors declare that they have no disclosures or competing financial interests.
- Issue published online: 17 MAY 2012
- Article first published online: 11 MAY 2012
- Manuscript Accepted: 10 FEB 2012
- Manuscript Received: 9 NOV 2011
- NICHD PO1. Grant Number: HD052860
- Cornelia de Lange syndrome;
- germline mosaicism;
- germ cell;
- genetic counseling
Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.5%; however, this figure may be an underrepresentation. We report on the molecularly defined germline mosaicism cases from a large CdLS database, representing the first large case series on germline mosaicism in CdLS. Of the 12 families, eight have been previously described; however, four have not. No one specific gene mutation, either in the NIPBL or the SMC1A gene, was associated with an increased risk for germline mosaicism. Suspected or confirmed cases of germline mosaicism in our database range from a conservative 3.4% up to 5.4% of our total cohort. In conclusion, the potential reproductive recurrence risk due to germline mosiacism should be addressed in prenatal counseling for all families who have had a previously affected pregnancy or child with CdLS. © 2012 Wiley Periodicals, Inc.