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Review
. 1991 Sep 15;40(4):509-12.
doi: 10.1002/ajmg.1320400428.

De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts

R G Weaver  1 , N Rao, I T Thomas, M J Pettenati
Affiliations
Review

De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts

R G Weaver et al. Am J Med Genet. .

Abstract

We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development.

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