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Article

Discordant phenotypes and 45,X/46,X,idic(Y).

Journal of medical genetics - 1 Oct 1998

Kelly T E, Franko J B, Rogol A, Golden W L

Abstract excerpt

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variability is observed...

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

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Source

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Identifiers

PMID: 9783714
DOI: 10.1136/jmg.35.10.862
PMCID: PMC1051466

Genes

SRY
ZFY

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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