The authors declared that they have no conflicts of interest.
Partial tetrasomy 14 associated with multiple malformations
Article first published online: 23 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1284–1290, June 2013
How to Cite
2013. Partial tetrasomy 14 associated with multiple malformations. Am J Med Genet Part A 161A:1284–1290., , , , , , , , , , .
- Issue published online: 22 MAY 2013
- Article first published online: 23 APR 2013
- Manuscript Accepted: 4 JAN 2013
- Manuscript Received: 22 JAN 2012
- Swedish Research Council
- Stockholm City Council
- Torsten and Ragnar, Söderberg's Foundation at Center for Molecular Medicine, Karolinska Institutet
- Frimurare Barnhuset in Stockholm
- Board of Doctoral Education at Karolinska Institutet
- isodicentric marker chromosome;
- tetrasomy 14p13q13.1;
- cleft lip and palate;
- complex I deficiency;
- intellectual disability;
- maternal meiosis
We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. © 2013 Wiley Periodicals, Inc.