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Peutz-Jeghers Syndrome definition: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Peutz-Jeghers Syndrome definition: An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome. --2004
Cafe-au-Lait Spots definition: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Watson syndrome definition: A rare syndrome originally described as comprising pulmonary valvular stenosis, cafe-au-lait spots, dull intelligence, and short stature. The phenotype has been later expanded to include macrocephaly and Lisch nodules in the majority of cases, and neurofibromatosis in one-third of the affected persons. Later studies indicate that the characteristics of this condition overlap those of neurofibromatosis and the Noonan syndrome (the neurofibromatosis-Noonan syndrome).
Watson Syndrome definition: A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1).
Hot Spot definition: A center of high activity within a larger area of low activity. The term is applied to different things in different areas of study.
Molecular Microarrays definition: Small solid plates (e.g., glass, silicon, nylon) on which densely packed samples (up to one million or more spots per microarray) of known sequences of nucleic acid nucleotides (e.g., DNA fragments known as oligonucleotides) in a predetermined array are either synthesized using photolithographic procedures or deposited using pin-spotting procedures (e.g., with ink-jet printers). Typically, the microarray is washed with a labeled (e.g., fluorescent) sample of an unknown sequence. The immobilized microarray spots mate with the sample sequences according to their complementary nature. The resulting fluorescence pattern permits the identification of the sample sequence using an appropriate reader (scanner) and/or data processing using a molecular array analyzer. Dedicated molecular microarrays are used for genetic expression, to detect variations in gene copies, and to detect gene mutations/polymorphisms.