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Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Authors
Type
Published Article
Journal
American Journal of Medical Genetics Part A
1552-4833
Publisher
Wiley Blackwell (John Wiley & Sons)
Publication Date
Volume
152A
Issue
12
Pages
3120–3123
Identifiers
DOI: 10.1002/ajmg.a.33492
PMID: 21082658
Source
Medline
License
Unknown

Abstract

Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. We present a 13-year-old boy with microphthalmia and multiple anomalies who was evaluated as part of our research into the etiology of microphthalmia. His clinical features included left microphthalmia, persistent hyperplastic primary vitreous and posterior coloboma, right posterior pole coloboma, pectus excavatum, mild hypotonia, mild delays in speech and motor development, and an anxiety disorder with social difficulties. Investigations with a chromosome microarray revealed a de novo deletion of chromosome 16p11.2 of approximately 882 kb in size. Deletions of this region of chromosome 16p11.2 are a newly delineated microdeletion syndrome, but this is the first report of microphthalmia and coloboma associated with monosomy for 16p11.2, and emphasizes the clinical variability that can be present with this deletion. This report contributes to the growing knowledge regarding this microdeletion and suggests that rare copy number changes may be a cause of microphthalmia and other eye anomalies.

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