How to Cite this Article: Said E, Cuschieri A, Vermeesch J, Fryns JP. 2011. Toriello–Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. Am J Med Genet Part A 155:1390–1392.
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH†
Article first published online: 12 MAY 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 6, pages 1390–1392, June 2011
How to Cite
Said, E., Cuschieri, A., Vermeesch, J. and Fryns, J. P. (2011), Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. Am. J. Med. Genet., 155: 1390–1392. doi: 10.1002/ajmg.a.33961
- Issue published online: 20 MAY 2011
- Article first published online: 12 MAY 2011
- Manuscript Accepted: 26 JAN 2011
- Manuscript Received: 5 OCT 2010
- Toriello–Carey syndrome;
- agenesis of the corpus callosum;
- Pierre Robin sequence;
- cardiac anomaly;
- array CGH;
- cryptic chromosomal rearrangement;
- 22q12.1-22q12.2 deletion;
- interstitial deletion
Toriello–Carey syndrome is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and cardiac anomaly. Autosomal recessive inheritance has been hypothesized and chromosome abnormalities have been reported. The present case is a girl with agenesis of the corpus callosum, a large cleft palate, telecanthus, hypertelorism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus. A routine karyotype and fluorescence in situ hybridization subtelomeric analysis were normal. Array comparative genomic hybridization (CGH) identified a de novo 6 Mb interstitial deletion at 22q12.1 22q12.2. These findings support recent findings of chromosomal abnormalities in patients with the Toriello–Carey phenotype. We suggest that the clinical features described in some cases with Toriello–Carey syndrome might be due to cryptic chromosomal rearrangements and that array CGH should be considered in any case presenting with clinical features of Toriello–Carey. © 2011 Wiley-Liss, Inc.