How to cite this article: Gignac J, Danis K, Tihy F, Lemyre E. 2006. Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am J Med Genet Part A 140A:2768–2775.
Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations†
Article first published online: 13 NOV 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 24, pages 2768–2775, 15 December 2006
How to Cite
Gignac, J., Danis, K., Tihy, F. and Lemyre, E. (2006), Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am. J. Med. Genet., 140A: 2768–2775. doi: 10.1002/ajmg.a.31472
- Issue published online: 21 NOV 2006
- Article first published online: 13 NOV 2006
- Manuscript Accepted: 2 AUG 2006
- Manuscript Received: 4 JAN 2006
- “Fondation du CHU Sainte-Justine”
- congenital malformations;
- subtelomeric rearrangements
Cryptic unbalanced subtelomeric rearrangements have been identified as an important contributor (∼6%) to the etiology of mental retardation and dysmorphism. Our objective was to study the role of these rearrangements in the development of fetal malformations. Multi-subtelomere FISH was performed on cells from 48 fetuses with major malformations diagnosed by prenatal ultrasound with a normal karyotype at a minimal 400 band resolution. We developed a method of performing multi-subtelomere FISH on a single slide of amniocyte metaphase spreads. We identified five subtelomeric abnormalities: two derivative chromosomes inherited from a parent carrying a balanced translocation, two known polymorphisms, and one novel familial variant. These results show a similar frequency (4%) of clinically significant subtelomeric rearrangements to that found in children with multiple malformations. This study adds to a growing number of reports of cryptic subtelomeric rearrangements associated with congenital malformations and highlights the relevance and technical feasibility of multi-subtelomere FISH screening of prenatal samples. © 2006 Wiley-Liss, Inc.