Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.

doi:10.1007/BF02255786

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Article

Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.

Somatic cell and molecular genetics - 1 Mar 1995

Migeon B R, Stetten G, Tuck-Muller C, Axelman J, Jani M, Dungy D

Abstract excerpt

As a result of selection following random X chromosome inactivation in human females, X chromosomes with visible deletions are usually inactive in every somatic cell. We have studied a female with mental retardation and dysmorphic features whose karyotype includes an X chromosome with a visible i...

Topics

Adolescent
Choroideremia
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
DNA Replication
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Intellectual Disability
Karyotyping
X Chromosome

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