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Article

"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.

American journal of medical genetics - 27 Jun 1997

Garcia-Heras J, Martin J A, Day D W, Scacheri P, Witchel S F

Abstract excerpt

We report a de novo dup(X)(q23-->q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. X-inactivation in lymphocytes by BRDU labeling showed the abnormal X was late replicating. The androgen receptor assay (HAR) demonstrated a skewed methylation (88.8%) of t...

Topics

Alleles
Bromodeoxyuridine
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Congenital Abnormalities
Dosage Compensation, Genetic
Fathers
Female
Growth Disorders
Humans
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Receptors, Androgen

X Chromosome

Source

Identifiers

PMID: 9182782
DOI: 10.1002/(sici)1096-8628(19970627)70:4<404::aid-ajmg13>3.0.co;2-l

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9182782-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.PMID 9182782Read ↗

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