Forms and Documents
- An individual with two or more of the following features: 1. Two or more Peutz-Jeghers-type hamartomatous polyps of the small intestine. 2. Mucocutaneous hyperpigmentation of the mouth, lips, nose, eyes, genitalia, or fingers v. 3. Family history of PJS
- An unaffected individual with a family history suggestive of PJS (see above) when an affected individual is unavailable for his or her own genetic testing.
- Capillary Sequencing
- Aretz, S. et al., High Proportion on Large Genomic STK11 Deletions in Peutz-Jeghers Syndrome. Human Mutation 12: 513-519, 2005
- Chow, E. et al. An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. Clin Genet. 70:409-414, 2006
- Mehenni, H. et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jehgers syndrome. Dig Dis Sci. 52:1924-1933, 2007