De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts |
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| Authors: | R. Grey Weaver Nagesh Rao Ioan T. Thomas Mark J. Pettenati |
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| Affiliation: | Department of Ophthalmology, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina |
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| 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 as sociations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development. |
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| Keywords: | chromosome 2 inversion eye abnormalities eye development |
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