Conflict of interest: none.
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
Article first published online: 25 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2363–2368, September 2013
How to Cite
2013. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration. Am J Med Genet Part A 161A:2363–2368., , , , , , , , , , , .
- Issue published online: 14 AUG 2013
- Article first published online: 25 JUL 2013
- Manuscript Accepted: 27 MAY 2013
- Manuscript Received: 27 OCT 2012
- small marker chromosome;
- recurring chromosome abnormality;
- intellectual disability;
- 18p trisomy
We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. © 2013 Wiley Periodicals, Inc.