Genetic anticipation and musculoskeletal disease.
نویسندگان
چکیده
منابع مشابه
Genetic anticipation and musculoskeletal disease.
In 1985, Strom et al described two families in which rheumatoid arthritis (RA) appeared in several members over three consecutive generations.' Although these pedigrees taken alone could implicate dominant inheritance, the overall picture with RA pedigrees indicates a complex mode of inheritance, with incomplete penetrance of predisposing genes and probably several genes being involved in the d...
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The term anticipation is applied to the phenomenon which children with a genetically influenced illness have the illness recognized at a much earlier age than their parent affected with the same illness. In some instances the illness is more severe in the child than in the parent, especially if the affected parent is the father. 1 There are multiple mechanisms by which apparent anticipation occ...
متن کاملGenetic anticipation in Behçet's syndrome.
OBJECTIVE To examine the presence of genetic anticipation in families with Behçet's syndrome (BS). METHODS A total of 18 families with 40 affected members in two successive generations were evaluated by interviewing them for their ages at the onset of the first symptom of BS and for their ages at the time they fulfilled the diagnostic criteria. RESULTS It was noted that the age of onset of ...
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Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies ...
متن کاملVariation in phenotypic appearance of Graves' disease: effect of genetic anticipation and duration of complaints.
OBJECTIVE Both genetic and environmental factors contribute to susceptibility of Graves' disease. In this study, we evaluated whether the duration of symptoms or a positive family history of autoimmune thyroid disease (AITD) are related to specific phenotypes in patients with a first episode of Graves' hyperthyroidism (GH). DESIGN Cross-sectional multicentre observational study. PATIENTS Tw...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 1994
ISSN: 0003-4967
DOI: 10.1136/ard.53.12.787