How to cite this article: Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM. 2009. Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization. Am J Med Genet Part A 149A:2106–2112.
Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization†
Article first published online: 12 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2106–2112, October 2009
How to Cite
Hempel, M., Rivera Brugués, N., Wagenstaller, J., Lederer, G., Weitensteiner, A., Seidel, H., Meitinger, T. and Strom, T. M. (2009), Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization. Am. J. Med. Genet., 149A: 2106–2112. doi: 10.1002/ajmg.a.33042
- Issue published online: 24 SEP 2009
- Article first published online: 12 AUG 2009
- Manuscript Accepted: 13 JUL 2009
- Manuscript Received: 5 MAR 2009
- NGFN. Grant Number: 01GS08163
- facial manifestation;
- feeding problems;
- speech delay;
- ear infection;
- SNP oligonucleotide array
The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the ∼500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay. © 2009 Wiley-Liss, Inc.