Case Reports
doi: 10.3928/01913913-20170907-03.
FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion
- PMID: 29156058
- DOI: 10.3928/01913913-20170907-03
Item in Clipboard
Case Reports
FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion
J Pediatr Ophthalmol Strabismus.
.
Abstract
A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 microdeletion and unbalanced translocation causing 11q deletion syndrome. This is the first report describing retinal findings associated with this combination of genetic alterations. Patients with 11q deletion syndrome or 16p13 microdeletions should undergo ophthalmologic examination. [J Pediatr Ophthalmol Strabismus. 2017;54:e71-e74.].
Copyright 2017, SLACK Incorporated.
Similar articles
-
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.Genet Couns. 2012;23(2):223-9. Genet Couns. 2012. PMID: 22876581
-
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.Am J Med Genet A. 2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302716 No abstract available.
-
De novo interstitial deletion in the long arm of chromosome 11: a case report.Genet Mol Res. 2016 Jul 14;15(2). doi: 10.4238/gmr.15028403. Genet Mol Res. 2016. PMID: 27421024
-
Interstitial 11q24 deletion: a new case and review of the literature.J Appl Genet. 2016 Aug;57(3):357-62. doi: 10.1007/s13353-015-0333-2. Epub 2016 Mar 28. J Appl Genet. 2016. PMID: 27020790 Review.
-
[Familial exudative vitreoretinopathy].Vestn Oftalmol. 2012 Sep-Oct;128(5):61-4. Vestn Oftalmol. 2012. PMID: 23210352 Review. Russian.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
