Literature DB >> 1225819

A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate.

S Tinning, P Jacobsen, M Mikkelsen.   

Abstract

A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, cleft palate and congenital glaucoma. Different banding methods revealed that the translocation t(1;6)(q23;q27) apparently was balanced. The conncection between the patients' symptoms and the chromosomal rearrangement might be fortuitous or produced by the chromosome aberration.

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Year:  1975        PMID: 1225819     DOI: 10.1159/000152760

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  3 in total

1.  Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

Authors:  J E Richards; P R Lichter; M Boehnke; J L Uro; D Torrez; D Wong; A T Johnson
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

2.  Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Authors:  M Bugge; G Bruun-Petersen; K Brøndum-Nielsen; U Friedrich; J Hansen; G Jensen; P K Jensen; U Kristoffersson; C Lundsteen; E Niebuhr; K R Rasmussen; K Rasmussen; N Tommerup
Journal:  J Med Genet       Date:  2000-11       Impact factor: 6.318

3.  Rieger's syndrome with pericentric inversion of chromosome 6.

Authors:  M H Heinemann; R Breg; E Cotlier
Journal:  Br J Ophthalmol       Date:  1979-01       Impact factor: 4.638

  3 in total

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