Literature DB >> 8320714

Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11).

J Ward1, E Vieto, D Lee, G Arosemena.   

Abstract

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Year:  1993        PMID： 8320714      PMCID： PMC1016389          DOI： 10.1136/jmg.30.5.438

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  The acrocallosal syndrome in sisters.

Authors:  A Schinzel; U Kaufmann
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

2.  Centromere staining at meiosis in man.

Authors:  A C Chandley; J M Fletcher
Journal:  Humangenetik       Date:  1973-05-25

3.  Identification of translocation chromosomes by quinacrine fluorescence.

Authors:  W R Breg; D A Miller; P W Allderdice; O J Miller
Journal:  Am J Dis Child       Date:  1972-06

4.  Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

Authors:  M Baraitser; R M Winter; E M Brett
Journal:  Clin Genet       Date:  1983-10       Impact factor: 4.438

5.  Prenatal diagnosis of a de novo reciprocal translocation 46,XX,t(1;18) (p22;q23).

Authors:  L Bovicelli; L F Orsini; N Rizzo; V Montacuti; M Bacchetta
Journal:  Clin Genet       Date:  1980-12       Impact factor: 4.438
  5 in total

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