Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
Joint Authors
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability.
Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia.
Herein we described a child with a de novo 19p13.3 microdeletion, proximal to the reported cases of 19p13.3 microdeletion/duplication, with ocular manifestations of bilateral ocular colobomata complicated with microphthalmos and cataract, associated with short stature.
This case highlights the phenotypic heterogeneity of deletions in the 19p13.3 region.
American Psychological Association (APA)
Swan, L.& Coman, D.. 2018. Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143299
Modern Language Association (MLA)
Swan, L.& Coman, D.. Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion. Case Reports in Genetics No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1143299
American Medical Association (AMA)
Swan, L.& Coman, D.. Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143299
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143299