Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.

doi:10.1002/ajmg.1320420205

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Article

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.

American journal of medical genetics - 15 Jan 1992

Schmidt M, Du Sart D

Abstract excerpt

We reviewed 122 cases of balanced X-autosome translocations in females, with respect to the X inactivation pattern, the position of the X break point and the resulting phenotype. In 77% of the patients the translocated X chromosome was early replicating in all cells analysed. The break points in...

Topics

Animals
Chromosome Aberrations
Chromosome Disorders
Chromosome Mapping
Diploidy
Dosage Compensation, Genetic
Female
Humans
Phenotype
Translocation, Genetic
X Chromosome

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