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Am J Med Genet. 1991 Sep 15;40(4):509-12.

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

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  • 1Department of Ophthalmology, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.


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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