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Article

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

American journal of human genetics - 1 Jul 1994

Wolff D J, Brown C J, Schwartz S, Duncan A M, Surti U, Willard H F

Abstract excerpt

The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromosomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq13.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely the DNA content of mar(X) chromosomes and to correlate phenotype with karyotype, we studied small mar(X) chromosomes,...

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Identifiers

PMID: 8023855
PMCID: PMC1918222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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