Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
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 microdele...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/2492437 |
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| _version_ | 1849399387308949504 |
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| author | L. Swan D. Coman |
| author_facet | L. Swan D. Coman |
| author_sort | L. Swan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a2c040862abd495bbec7991fff014b4b |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a2c040862abd495bbec7991fff014b4b2025-08-20T03:38:19ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/24924372492437Ocular Manifestations of a Novel Proximal 19p13.3 MicrodeletionL. Swan0D. Coman1Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, AustraliaDepartment of Paediatrics, The Wesley Hospital, Brisbane, QLD, AustraliaMicrodeletions 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.http://dx.doi.org/10.1155/2018/2492437 |
| spellingShingle | L. Swan D. Coman Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion Case Reports in Genetics |
| title | Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion |
| title_full | Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion |
| title_fullStr | Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion |
| title_full_unstemmed | Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion |
| title_short | Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion |
| title_sort | ocular manifestations of a novel proximal 19p13 3 microdeletion |
| url | http://dx.doi.org/10.1155/2018/2492437 |
| work_keys_str_mv | AT lswan ocularmanifestationsofanovelproximal19p133microdeletion AT dcoman ocularmanifestationsofanovelproximal19p133microdeletion |