Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes
Article first published online: 7 AUG 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 124A, Issue 3, pages 288–291, 30 January 2004
How to Cite
Marcus-Soekarman, D., Hamers, G., Velzeboer, S., Nijhuis, J., Loneus, W.H., Herbergs, J., de Die-Smulders, C., Schrander-Stumpel, C. and Engelen, J. (2004), Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes. Am. J. Med. Genet., 124A: 288–291. doi: 10.1002/ajmg.a.20403
- Issue published online: 31 DEC 2003
- Article first published online: 7 AUG 2003
- Manuscript Accepted: 20 MAY 2003
- Manuscript Received: 24 DEC 2002
- trisomy 11p;
- monozygotic twins;
- unbalanced structural rearrangement;
- discrepant phenotype
We report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation and findings at the cytogenetic level are described. One of the infants had definite minor anomalies at birth, also found in other cases of trisomy of 11p resembling the Beckwith–Wiedemann syndrome. Theoretical backgrounds regarding the string of events leading to the cytogenetic findings in these twins and the various factors that might have contributed to the dissimilarities in phenotype between these twins are discussed. © 2003 Wiley-Liss, Inc.