How to Cite this Article: Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. 2012. A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am J Med Genet Part A 161A:198–202.
Article first published online: 13 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 198–202, January 2013
How to Cite
Montgomery, N. D., Turcott, C. M., Tepperberg, J. H., McDonald, M. T. and Aylsworth, A. S. (2013), A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am. J. Med. Genet., 161: 198–202. doi: 10.1002/ajmg.a.35671
The authors have no conflicts of interest to declare.
Nathan D. Montgomery and Christie Turcott contributed equally to this work.
- Issue published online: 22 DEC 2012
- Article first published online: 13 DEC 2012
- Manuscript Accepted: 21 AUG 2012
- Manuscript Received: 20 OCT 2011
- Potocki–Shaffer syndrome;
- developmental delay;
- self-injurious behavior;
Potocki–Shaffer syndrome (PSS) is a rare disorder caused by haploinsufficiency of genes located on the proximal short arm of chromosome 11 (11p11.2p12). Classic features include biparietal foramina, multiple exostoses, profound hypotonia, dysmorphic features, and developmental delay/intellectual disability. Fewer than 40 individuals with PSS have been reported, with variable clinical presentations due in part to disparity in deletion sizes. We report on a boy who presented for initial evaluation at age 13 months because of a history of developmental delay, hypotonia, subtle dysmorphic features, and neurobehavioral abnormalities. SNP microarray analysis identified a 137 kb deletion at 11p11.2, which maps within the classically defined PSS interval. This deletion results in haploinsufficiency for all or portions of six OMIM genes: SLC35C1, CRY2, MAPK8IP1, PEX16, GYLTL1B, and PHF21A. Recently, translocations interrupting PHF21A have been associated with intellectual disability and craniofacial anomalies similar to those seen in PSS. The identification of this small deletion in a child with developmental delay and hypotonia provides further evidence for the genetic basis of developmental disability and identifies a critical region sufficient to cause hypotonia in this syndrome. Additionally, this case illustrates the utility of high resolution genomic approaches in correlating clinical phenotypes with specific genes in contiguous gene deletion syndromes. © 2012 Wiley Periodicals, Inc.