Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

Author:

Baptista Julia,Prigmore Elena,Gribble Susan M,Jacobs Patricia A,Carter Nigel P,Crolla John A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Jacobs PA, Browne C, Gregson N, Joyce C, White H : Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992; 29: 103–108.

2. Gardner RJM, Sutherland GR : Chromosome Abnormalities and Genetic Counseling, 3rd ed Oxford: Oxford University Press, 2004; pp 36–59.

3. Warburton D : De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49: 995–1013.

4. Wirth J, Nothwang HG, van der Maarel S et al: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet 1999; 36: 271–278.

5. Astbury C, Christ LA, Aughton DJ et al: Detection of deletions in de novo ‘balanced’ chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet Med 2004; 6: 81–89.

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