How to Cite this Article: Scollon S, McWalter K, Abe K, King J, Kimata K, Slavin TP. 2012. Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz–Jeghers phenotype. Am J Med Genet Part A 158A: 2959–2962.
Article first published online: 14 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2959–2962, November 2012
How to Cite
Scollon, S., McWalter, K., Abe, K., King, J., Kimata, K. and Slavin, T. P. (2012), Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz–Jeghers phenotype. Am. J. Med. Genet., 158A: 2959–2962. doi: 10.1002/ajmg.a.35629
The authors report no financial interests or conflicts of interest.
- Issue published online: 17 OCT 2012
- Article first published online: 14 SEP 2012
- Manuscript Accepted: 26 JUL 2012
- Manuscript Received: 19 APR 2012
- Peutz–Jeghers syndrome;
- chromosome 19p deletion;
- contiguous gene deletion syndrome
We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor suppressor gene STK11. In addition to abnormal lip pigmentation on exam, further diagnostic workup with upper and lower gastrointestinal screening confirmed polyps consistent with Peutz–Jeghers syndrome. The purpose of this study is to present a full clinical description of a patient with a rare 19p13.3 chromosomal deletion and review the current literature of this newly emerging contiguous gene deletion syndrome. It also supports the screening for complications of Peutz–Jeghers syndrome in all patients with this deletion. © 2012 Wiley Periodicals, Inc.