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Article

Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.

American journal of medical genetics - 5 Jun 1998

Wolff D J, Schwartz S, Montgomery T, Zackowski J L

Abstract excerpt

X inactivation is the process by which mammalian females achieve dosage compensation by transcriptionally silencing one X chromosome. In chromosomally normal females, this process is random. However, most females with one abnormal X chromosome demonstrate complete skewing of X inactivation, presu...

Topics

Child
Chromosome Banding
Chromosomes, Human, Pair 9
Dosage Compensation, Genetic
Female
Humans
Karyotyping
Male
Phenotype
Translocation, Genetic
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9632170
DOI: 10.1002/(sici)1096-8628(19980605)77:5<401::aid-ajmg9>3.0.co;2-p

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9632170-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.PMID 9632170Read ↗

Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome.Semantic proximity Read ↗

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Semantic proximity Read ↗

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.Semantic proximity Read ↗

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.Semantic proximity Read ↗

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.Semantic proximity Read ↗

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].Semantic proximity Read ↗

X chromosome inactivation and X-linked mental retardation.Semantic proximity Read ↗

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Phenotype and X inactivation in 45,X/46,X,r(X) cases.Semantic proximity Read ↗

Skewed X inactivation in X-linked disorders.Semantic proximity Read ↗

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