title: De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts.
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.
authors.affiliation: Department of Ophthalmology, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.
authors.forename: R G
authors.initials: RG
authors.lastname: Weaver
authors.forename: N
authors.initials: N
authors.lastname: Rao
authors.forename: I T
authors.initials: IT
authors.lastname: Thomas
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
mesh_terms: D002386:Cataract / Q000150:complications / Q000235:genetics*; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008850:Microphthalmos / Q000150:complications / Q000235:genetics*