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 interesting. Recently, the PJS gene has been mapped to chromosome 19p13.
17 references, click to expand
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Peutz-Jeghers syndrome and ureteral polyposis.JAMA. 1970 Jan 5;211(1):120-2 PMID: 5466889
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Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance.N Engl J Med. 1949 Dec 22;241(25):993, illust; passim PMID: 15399020
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Peutz-Jeghers syndrome with feminizing sertoli cell tumor.Cancer. 1980 Jul 1;46(1):223-8 PMID: 6770991
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Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? A later look.Arch Surg. 1981 Sep;116(9):1182-4 PMID: 7283716
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Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix.Cancer. 1982 Oct 1;50(7):1384-402 PMID: 7104978
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Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up.Cancer. 1982 Nov 15;50(10):2139-46 PMID: 7127254
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Testicular tumors with Peutz-Jeghers syndrome.Cancer. 1986 Jun 1;57(11):2238-40 PMID: 3697923
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Increased risk of cancer in the Peutz-Jeghers syndrome.N Engl J Med. 1987 Jun 11;316(24):1511-4 PMID: 3587280
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Peutz-Jeghers syndrome: a clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up.Gastroenterology. 1988 Dec;95(6):1535-40 PMID: 3181678
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Cancer and the Peutz-Jeghers syndrome.Gut. 1989 Nov;30(11):1588-90 PMID: 2599445
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An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia.N Engl J Med. 1991 Jan 31;324(5):317-22 PMID: 1986290
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Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome.Am J Surg Pathol. 1995 Jan;19(1):50-8 PMID: 7802138
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A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map.Hum Genet. 1996 Aug;98(2):125-8 PMID: 8698325
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Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease.Ann Hum Genet. 1996 Sep;60(Pt 5):377-84 PMID: 8912790
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Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.Nat Genet. 1997 Jan;15(1):87-90 PMID: 8988175
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Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).J Med Genet. 1997 Jul;34(7):582-6 PMID: 9222968
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Peutz-Jeghers syndrome: its natural course and management.Johns Hopkins Med J. 1975 Feb;136(2):71-82 PMID: 1117595
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