Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome
نویسندگان
چکیده
منابع مشابه
Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by mucocutaneous pigmentations, gastrointestinal (GI) polyposis and an increased risk of certain malignancies. Little is known about the causative genes of PJS, or their association with the clinical phenotypes of PJS. The present study reports the results of clinical and genetic analysis of three Chinese families with PJS. In ...
متن کاملPeutz-Jeghers syndrome
Introduction Peutz-Jeghers syndrome (PJS) is characterized by: (i) autosomal dominant inheritance; (ii) cutaneous pigmentation; (iii) gastro-intestinal polyposis. In all, more than 300 cases have been described with a world-wide distribution and no racial predilection. In 1921 Peutz described 7 cases of multiple intestinal polyps associated with melanin spots on the lips, buccal mucosa and digi...
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors....
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly intere...
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome is a rare, autosomal dominant inherited disorder, which is characterized by mucocutaneous pigmentations, gastrointestinal polyposis and an increased risk of cancer. It is caused by germline mutations in the LKB1 tumour suppressor gene, as a result of which hamartomatous polyps can develop already at an early age, which may cause various complications, including abdominal ...
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ژورنال
عنوان ژورنال: Experimental and Therapeutic Medicine
سال: 2016
ISSN: 1792-0981,1792-1015
DOI: 10.3892/etm.2016.3980