Literature DB >> 1003452

Discordance for Cornelia de Lange syndrome in twins.

R E Stevenson, C I Scott.   

Abstract

A male infant, the first-born of twins, with features of Cornealia de Lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. Chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de Lange syndrome remains obscure, most authorities accept genetic rather than environmental causation. The present findings of discordance for Cornelia de Lange syndrome in twins support this view but do not clarify the mode of inheritance.

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Year:  1976        PMID: 1003452      PMCID: PMC1013449          DOI: 10.1136/jmg.13.5.402

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


  3 in total

1.  Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome.

Authors:  M L Motl; J M Opitz
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

2.  [Cornelia de Lange syndrome I in twins (Amsterdam type of degeneration)].

Authors:  H Kroth
Journal:  Arch Kinderheilkd       Date:  1966-02

3.  De Lange syndrome: report of 20 cases.

Authors:  R G McArthur; J H Edwards
Journal:  Can Med Assoc J       Date:  1967-04-29       Impact factor: 8.262

  3 in total
  1 in total

1.  Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.

Authors:  W G Wilson; J M Kennaugh; J P Kugler; H E Wyandt
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

  1 in total

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