The meaning of PEUTZ-JEGHERS SYNDROME is a familial polyposis inherited as an autosomal dominant trait and characterized by numerous polyps in the stomach, small intestine, and colon and by melanin-containing spots on the skin and mucous membranes especi
Peutz-Jeghers syndromeSynonym(s)SynonymsNoneDefinitionDefinitionHereditary syndromecharacterized by multiple gastrointestinal polyps and mucocutaneouspigmentationPathogenesisPathogenesisAutosomal dominanttrait; germlineN. Levine Prof. DrC. C. Levine
黑斑息肉综合征(Peutz-Jeghers syndrome, PJS)又称家族性黏膜皮肤色素沉着胃肠道息肉病,是一种常染色体显性遗传病,以皮肤黏膜色素沉着、胃肠道多发息肉为主要特点。患病率为1/200000～1/8000。患者胃肠道息肉发生癌变风险较高,需要定期监测、规律随诊、及时治疗。黑斑息肉综合征是一种常染色体显性遗传疾病,大部分与...
Peutz-Jeghers Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.
Twitter Google Share on Facebook polyp (redirected fromPeutz-Jeghers syndrome) Thesaurus Medical Acronyms Encyclopedia Wikipedia Related to Peutz-Jeghers syndrome:Lynch syndrome,Turcot syndrome polyp pedunculate polyp (top) and sessile polyp (bottom) in a section of large intestine ...
Peutz-Jeghers syndrome is autosomal dominant, meaning that the mutation that causes it is not on one of the sex-linked chromosomes (X and Y) and that one copy of the defective gene, received from either parent, is enough to cause the disorder. The genetic defect can also arise in someone...
波伊茨-耶格综合征(Peutz-Jeghers syndrome,PJS),也被称为黑斑息肉综合征,是常染色体显性遗传的综合征,是一类伴有黏膜、皮肤色素沉着的全胃肠道多发性息肉病。2018年5月该疾病被列入国家卫生健康委员会等5部门联合制定的《第一批罕见病目录》。 PJS发病率约 1...
佳学基因的黑斑息肉综合征(Peutz-Jeghers syndrome)是一种遗传性疾病,其致病基因已被鉴定为STK11基因。基因解码项目通过全外显子测序可以增加检出率和正确性,具体原因如下: 1. 全外显子测序:全外显子测序是一种高通量测序技术,可以同时测序所有外显子区域的基因序列。相比于传统的Sanger测序方法,全外显子测序可以...
pigmentation varying in color from bluish black to dark brown to blue; lesions may fade over time Differential diagnosis Familial adenomatous polyposis; Cowden disease; juvenile polyposis; Ruvalcaba-Myhre-Smith; Turcot syndrome; Carney's syndrome; Cronkhite-Canada syndrome Therapy No treatment for mucocu...
Jan Peutz, Harold Jeghers and a remarkable combination of polyposis and pigmentation of the skin and mucous membranes. Familial Cancer, 2001, 1: 181-185. Douglas Riegert-Johnson, MD:Familial Cancer Syndromes. 2009. Chapter 1. Peutz-Jeghers Syndrome. By: Douglas Riegert-Johnson, Ferga C. ...