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Article

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.

American journal of medical genetics - 15 Jan 1992

Du Sart D, Kalitsis P, Schmidt M

Abstract excerpt

We present a balanced translocation (X;9) (q28;q21) in which the normal X chromosome is preferentially active. The derivative X chromosome is inactive in 93% of fibroblasts, but the X portion translocated onto chromosome 9 is not inactivated, as apparent from DNA methylation and chromosome replication patterns. Consequently, the patient is functionally disomic for the part of Xq28 distal to the locus LICAM.

Topics

Child
Chromosome Aberrations
Chromosome Banding
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 9
DNA
Dosage Compensation, Genetic
Female
Humans
Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methylation

Phenotype

Translocation, Genetic

X Chromosome

Source

Identifiers

PMID: 1733163
DOI: 10.1002/ajmg.1320420204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1733163-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.PMID 1733163Read ↗

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