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De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts
R G Weaver1, N Rao, I T Thomas
1Department of Ophthalmology, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.
American Journal of Medical Genetics
|September 15, 1991
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.