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Souza J, Faucz F, Sotomaior V, et al. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genet Mol Biol. 2011;34(4):557-61doi: 10.1590/S1415-47572011005000044.
Souza, J., Faucz, F., Sotomaior, V., Filho, A. B., Rosenfeld, J., & Raskin, S. (2011). Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genetics and molecular biology, 34(4), 557-61. https://doi.org/10.1590/S1415-47572011005000044
Souza, Josiane, et al. "Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome." Genetics and molecular biology vol. 34,4 (2011): 557-61. doi: https://doi.org/10.1590/S1415-47572011005000044
Souza J, Faucz F, Sotomaior V, Filho AB, Rosenfeld J, Raskin S. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genet Mol Biol. 2011 Oct;34(4):557-61. doi: 10.1590/S1415-47572011005000044. Epub 2011 Oct 01. PMID: 22215957; PMCID: PMC3229108.
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Genet Mol Biol. 2011 Oct;34(4):557-61. doi: 10.1590/S1415-47572011005000044. Epub 2011 Oct 01.

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.

Genetics and molecular biology

Josiane Souza, Fábio Faucz, Vanessa Sotomaior, Aguinaldo Bonalumi Filho, Jill Rosenfeld, Salmo Raskin

Affiliations

  1. Núcleo de Investigação Molecular Avançada, Programa de Pós-Graduação em Ciências da Saúde, Centro de Ciencias Biológicas e da Saúde, Pontificia Universidade Catolica do Paraná, Curitiba, PR, Brazil.

PMID: 22215957 PMCID: PMC3229108 DOI: 10.1590/S1415-47572011005000044

Abstract

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome.

Keywords: 19p13.3 deletion; Peutz-Jeghers syndrome; STK11 gene; comparative genomic hybridization array; contiguous gene syndrome

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