Literature DB >> 12403743

Medical genetics: 3. An approach to the adult with a genetic disorder.

Dawna M Gilchrist1.   

Abstract

Many genetic disorders do not manifest themselves until the adult years. Such disorders often involve multiple genetic factors interacting with multiple environmental factors, over time, to produce a phenotype. This paper reviews the modes of inheritance of genetic disorders and describes the types of genetic testing that are currently available. It offers clues that should lead physicians to suspect that an adult patient might have a genetic disorder and raises issues that should be considered in counselling the patient about genetic testing. Resources for patients and their family physicians are also discussed.

Entities:  

Mesh:

Year:  2002        PMID: 12403743      PMCID: PMC134180     

Source DB:  PubMed          Journal:  CMAJ        ISSN: 0820-3946            Impact factor:   8.262


  37 in total

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Authors:  F S Collins
Journal:  N Engl J Med       Date:  1999-07-01       Impact factor: 91.245

Review 2.  The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.

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Journal:  J Pediatr       Date:  1998-04       Impact factor: 4.406

Review 3.  Alport's syndrome.

Authors:  F Flinter
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

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Authors:  J A Witkowski
Journal:  J Child Neurol       Date:  1989-10       Impact factor: 1.987

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Journal:  Br Med Bull       Date:  1969-01       Impact factor: 4.291

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Authors:  G W Dewald; V V Michels
Journal:  Clin Obstet Gynecol       Date:  1986-12       Impact factor: 2.190

Review 7.  Molecular diagnosis (1).

Authors:  B Korf
Journal:  N Engl J Med       Date:  1995-05-04       Impact factor: 91.245

8.  Genetic disorders in children and young adults: a population study.

Authors:  P A Baird; T W Anderson; H B Newcombe; R B Lowry
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

Review 9.  Colorectal cancer.

Authors:  R Midgley; D Kerr
Journal:  Lancet       Date:  1999-01-30       Impact factor: 79.321

10.  BRCA1 mutations in a population-based sample of young women with breast cancer.

Authors:  A A Langston; K E Malone; J D Thompson; J R Daling; E A Ostrander
Journal:  N Engl J Med       Date:  1996-01-18       Impact factor: 91.245

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