Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
Ophthalmic Genet
; 33(3): 161-6, 2012 09.
Article
em En
| MEDLINE
| ID: mdl-22486322
ABSTRACT
We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right. The left eye has microphthalmia involving the anterior and posterior segments, microcornea, iris coloboma, chorioretinal dysgenesis, macular dysplasia, absence of retinal vessels, and optic nerve aplasia. Systemic abnormalities include microcephaly, bilateral hearing loss, and duodenal atresia. Electrophysiologic testing showed no response from either eye. Cytogenetic testing revealed a de novo interstitial deletion of chromosome 14q22.3q23.1. The literature of similar interstitial deletions and ongoing candidate gene studies are reviewed.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 14
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Anormalidades do Olho
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Deleção Cromossômica
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article