How to Cite this Article: Izumi K, Brooks SS, Feret HA, Zackai EH. 2012. 1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype. Am J Med Genet Part A. 158A:1535–1541.
1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype†
Article first published online: 21 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1535–1541, July 2012
How to Cite
Izumi, K., Brooks, S. S., Feret, H. A. and Zackai, E. H. (2012), 1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype. Am. J. Med. Genet., 158A: 1535–1541. doi: 10.1002/ajmg.a.35368
- Issue published online: 18 JUN 2012
- Article first published online: 21 MAY 2012
- Manuscript Accepted: 4 MAR 2012
- Manuscript Received: 3 OCT 2011
- Pierre Robin sequence;
- cleft palate;
- agenesis of the corpus callosum;
- pulmonary hypertension
Braddock–Carey syndrome is characterized by Pierre Robin sequence, agenesis of the corpus callosum, facial dysmorphisms, developmental delay, and congenital thrombocytopenia. Recently, Braddock–Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the RUNX1 gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. Therefore, the syndrome has emerged as a contiguous gene deletion syndrome. Here, we describe an infant with Pierre Robin sequence, facial anomalies, congenital heart defects, hypotonia, and the absence of thrombocytopenia, who was found to have a 1.9 Mb microdeletion within the Braddock–Carey contiguous deletion syndrome region. This deletion spares the RUNX1 gene, narrowing the genomic region responsible for a part of the Braddock–Carey syndrome phenotype. Further studies are awaited to understand the role of the genes located within 21q22 in the pathogenesis of Braddock–Carey syndrome. © 2012 Wiley Periodicals, Inc.