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Atypical Peters' anomaly associated with partial trisomy 5p.

作者信息

Dichtl A, Jonas J B, Naumann G O

机构信息

Department of Ophthalmology and Eye Hospital, Friedrich-Alexander-University, Erlangen, Germany.

出版信息

Am J Ophthalmol. 1995 Oct;120(4):541-2. doi: 10.1016/s0002-9394(14)72678-9.

DOI:10.1016/s0002-9394(14)72678-9
PMID:7573322
Abstract

PURPOSE

We examined a child who had atypical Peters' anomaly and partial trisomy 5p.

METHODS

An 11-week-old female infant with multiple developmental malformations and a partial trisomy 5p had bilateral corneal opacities extending from the center of the cornea to the paralimbal region and bilateral iridocorneal adhesions in the areas of the corneal opacities.

RESULTS

In addition to association with several other chromosomal disorders, Peters' anomaly may be associated with partial trisomy 5p.

CONCLUSIONS

Since partial trisomy 5p can be diagnosed by genetic evaluation, a chromosomal analysis should be performed for children with Peters' anomaly.

摘要

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Am J Ophthalmol. 1995 Oct;120(4):541-2. doi: 10.1016/s0002-9394(14)72678-9.
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引用本文的文献

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Chromosome abnormalities and the genetics of congenital corneal opacification.染色体异常与先天性角膜混浊的遗传学
Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17.
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A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.一种新型的 FOXE3 基因无终止突变导致一种常染色体显性遗传的可变前节发育不良,包括 Peters 异常。
Eur J Hum Genet. 2011 Mar;19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8.