Literature DB >> 8154535

Anterior polar cataract in two sisters with an unbalanced 3;18 chromosomal translocation.

S E Rubin1, L B Nelson, B A Pletcher.   

Abstract

Congenital anterior polar cataracts can be associated with chromosomal abnormalities. We treated two sisters with this condition who had the same unbalanced translocation between the long arm of chromosome 3 and the short arm of chromosome 18. Their mother had a balanced translocation between those chromosomes but had no cataract. Both sisters had dysmorphic features. Their genetic status resulted in partial trisomy of the long arm of chromosome 3 and partial monosomy of the short arm of chromosome 18. To aid in the identification of specific cataract genes, patients with chromosomal abnormalities should have careful ophthalmic examinations, and their lenticular findings should be reported.

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Year:  1994        PMID: 8154535     DOI: 10.1016/s0002-9394(14)70013-3

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  3 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Authors:  Lu Zhang; Yi Zhang; Ping Liu; Wenping Cao; Xianling Tang; Sheng Su
Journal:  Mol Vis       Date:  2011-10-15       Impact factor: 2.367

3.  Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Authors:  Emre Zafer; Jeanne Meck; Liora Gerrad; Elon Pras; Moshe Frydman; Orit Reish; Isaac Avni; Eran Pras
Journal:  Mol Vis       Date:  2008-03-14       Impact factor: 2.367

  3 in total

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