How to Cite this Article: Shoukier M, Wickert J, Schröder J, Bartels I, Auber B, Zoll B, Salinas-Riester G, Weise D, Brockmann K, Zirn B, Burfeind P. 2012. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect. Am J Med Genet Part A 158A:229–235.
Article first published online: 2 DEC 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 229–235, January 2012
How to Cite
Shoukier, M., Wickert, J., Schröder, J., Bartels, I., Auber, B., Zoll, B., Salinas-Riester, G., Weise, D., Brockmann, K., Zirn, B. and Burfeind, P. (2012), A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect. Am. J. Med. Genet., 158A: 229–235. doi: 10.1002/ajmg.a.34387
Moneef Shoukier, Julia Wickert, Birgit Zirn, and Peter Burfeind contributed equally to this work.
- Issue published online: 19 DEC 2011
- Article first published online: 2 DEC 2011
- Manuscript Accepted: 24 OCT 2011
- Manuscript Received: 26 JAN 2011
- array CGH;
- severe psychomotor delay;
- craniofacial dysmorphism;
- brain malformation;
- 16q12 deletion
Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic hybridization (aCGH) revealed that the patient's features were likely caused by a 4.7 Mb de novo deletion on chromosome 16q12.1q12.2, which was confirmed by quantitative real-time PCR (qPCR). The psychomotor delay and craniofacial dysmorphism are more severe in our patient than previously reported patients. Unmasked recessive mutations in the ZNF423 and FTO genes on the remaining allele were excluded as the putative cause for this severe phenotype. In conclusion, the phenotypic spectrum of microdeletions in 16q12 is broad and comprises variable degrees of psychomotor delay and intellectual disability, craniofacial anomalies, and additional features, including heart defects, brain malformations, and limb anomalies. © 2011 Wiley Periodicals, Inc.