Literature DB >> 1877615

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

C Romano1, R M Ragusa, F Scillato, D Greco, G Amato, C Barletta.   

Abstract

We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.

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Year:  1991        PMID: 1877615     DOI: 10.1002/ajmg.1320390405

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Mosaic cri-du-chat syndrome in a girl with a mild phenotype.

Authors:  Lilia Maria de Azevedo Moreira; Acácia Fernandes Lacerda de Carvalho; Ana Lúcia Vieira de Freitas Borja; Paula Sanders Pereira Pinto; Adriana Silveira; Lucy Magalhães de Freitas; Maria de Lourdes Lima Falcão
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

  1 in total

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