Literature DB >> 1746620

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

R G Weaver1, N Rao, I T Thomas, M J Pettenati.   

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.

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Year:  1991        PMID： 1746620     DOI： 10.1002/ajmg.1320400428

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  1 in total

1.  Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation.

Authors:  Y Yokoyama; K Narahara; K Tsuji; S Ninomiya; Y Seino
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  1 in total

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