De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts.
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.
Weaver
R G
RG
Department of Ophthalmology, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.
Rao
N
N
Thomas
I T
IT
Pettenati
M J
MJ
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*