ArticleGenetics and molecular biology2011
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.
Article in Genetics and molecular biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome.Cureus · 2023Article
- Article
- Normal peripheral blood neutrophil numbers accompanyingBlood advances · 2019Article
- Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.Case reports in genetics · 2018Article
- Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome.Annals of laboratory medicine · 2017Article
- Duodenal cancer in a young patient with Peuts-Jeghers syndrome harboring an entire deletion of the STK11 gene.Clinical journal of gastroenterology · 2017Article
- Clinical and molecular characterization of a de novo 19p13.3 microdeletion.Molecular cytogenetics · 2016Article
- PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.European journal of human genetics : EJHG · 2015Article
- Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review).Oncology letters · 2013Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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