How to Cite this Article: Chui JV, Weisfeld-Adams JD, Tepperberg J, Mehta L. 2011. Clinical and Molecular Characterization of Chromosome 7p22.1 Microduplication Detected by Array CGH. Am J Med Genet Part A 155:2508–2511.
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH†
Article first published online: 16 AUG 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 10, pages 2508–2511, October 2011
How to Cite
Chui, J. V., Weisfeld-Adams, J. D., Tepperberg, J. and Mehta, L. (2011), Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH. Am. J. Med. Genet., 155: 2508–2511. doi: 10.1002/ajmg.a.34180
- Issue published online: 20 SEP 2011
- Article first published online: 16 AUG 2011
- Manuscript Accepted: 27 MAY 2011
- Manuscript Received: 18 AUG 2010
- 7p duplication syndrome;
- 7p22.1 microduplication;
- array comparative genomic hybridization;
- delayed fontanel closure;
- speech delay;
- craniofacial abnormalities
A 28-month-old Peruvian male presented with speech delay and unusual facial features including prominent forehead, anteverted nares, ocular hypertelorism, and low-set and posteriorly rotated ears with a unilateral preauricular pit. The patient had poor speech with no other developmental delays. Height and weight were normal, although closure of the anterior fontanel and bone age were delayed. Head circumference approximated the 95th centile for age. Following normal routine chromosome analysis and subtelomeric FISH, whole genome microarray revealed a novel interstitial duplication at 7p22.1, approximately 1.7 Mb in size, and containing 13 OMIM annotated genes. FISH studies on the propositus and his parents confirmed that the duplication had occurred de novo. This finding represents the smallest interstitial 7p duplication reported to date, and does not include genes previously implicated as candidates for a 7p duplication syndrome. Common phenotypic features of 7p duplication include distinctive facies with hypertelorism, large anterior fontanel, and intellectual disability. Based on the findings in our patient, and those in previously reported cases of 7p duplication, we propose that genes within this duplicated interval may have a role in skeletal maturation, craniofacial development, and speech acquisition. © 2011 Wiley-Liss, Inc.