Literature DB >> 3662912

Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)].

P D Reese1, C M Tuck-Muller, I H Maumenee.   

Abstract

We studied a family in which congenital cataracts were found in a father and son who had a reciprocal translocation between the short arms of chromosomes 3 and 4 [t(3;4)(p26.2;p15)]. The father's parents and brother had normal chromosomes and no evidence of cataracts. While results of these studies do not prove a causal relationship, they do strongly suggest that the areas near the break points involved in the translocation (3p26.2 and 4p15) would be good sites for further investigations into the genetic basis of this type of cataract.

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Year:  1987        PMID: 3662912     DOI: 10.1001/archopht.1987.01060100084032

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  5 in total

1.  Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4.

Authors:  E Zhou; P Grimes; J Favor; B Koeberlein; W Pretsch; A Neuhauser-Klaus; D Sidjanin; D Stambolian
Journal:  Mamm Genome       Date:  1997-03       Impact factor: 2.957

2.  Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.

Authors:  H Eiberg; A M Lund; M Warburg; T Rosenberg
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

Review 3.  [Examination methods in the diagnosis of uni- and bilateral cataracts in childhood].

Authors:  M Lüchtenberg; T Kohnen
Journal:  Ophthalmologe       Date:  2007-07       Impact factor: 1.174

4.  Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

Authors:  Vanita Vanita; Jai Rup Singh; Daljit Singh; Raymonda Varon; Karl Sperling
Journal:  Mol Vis       Date:  2009-03-04       Impact factor: 2.367

5.  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

  5 in total

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