Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature
Article first published online: 30 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1447–1452, June 2013
How to Cite
2013. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature. Am J Med Genet Part A 161A:1447–1452., , , ., .
- Issue published online: 22 MAY 2013
- Article first published online: 30 APR 2013
- Manuscript Accepted: 20 JAN 2013
- Manuscript Received: 23 JUL 2012
- ring 9;
- 9p deletion syndrome;
- Kleefstra syndrome;
In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12 Mb deletion at 9pter-p23 and a 540 kb deletion at 9q34.3-qter. Four percent of the analyzed cells had monosomy 9. The patient has the features of both the Kleefstra syndrome and the chromosome 9p-syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro-/micronagthia. The deletion of the patient overlaps with several of the proposed critical regions for the 9p deletion syndrome. © 2013 Wiley Periodicals, Inc.