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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 the paternal allele and a 11.2% methylation of the maternal allele. These data, which suggest the duplication was...

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Source

Identifiers

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

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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