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Article

Turner syndrome phenotype with 47,XXX karyotype: further investigation warranted?

American journal of medical genetics. Part A - 15 Feb 2004

Wallerstein Robert, Musen Erica, McCarrier Julie, Aisenberg Javier, Chartoff Amy, Hutcheon R Gordon, Tepperberg James, Pappenhausen Peter, Griffin Sharon

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Share to Chromosomes, Human, X
Share to Karyotyping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14755478
DOI: 10.1002/ajmg.a.20362

Provenance

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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[Phenotypic variability in 47, XXX patients: Clinical report of four new cases].Semantic proximity Read ↗

47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management.Semantic proximity Read ↗

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained casesSemantic proximity Read ↗

[47 XXX karyotype in a phenotypically normal 22-year-old girl].Semantic proximity Read ↗

Triple X syndrome with rare phenotypic presentation.Semantic proximity Read ↗

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Care of women with XY karyotype: a clinical practice guidelineSemantic proximity Read ↗

Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birthSemantic proximity Read ↗

Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of casesSemantic proximity Read ↗

Turner Syndrome Genotype and Phenotype and Their Effect on Presenting Features and Timing of DiagnosisSemantic proximity Read ↗

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