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Article

Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

European journal of medical genetics - 1 Mar 2021

Snyder Emma A, San Roman Adrianna K, Piña-Aguilar Raul E, Steeves Marcie A, McNamara Erin A, Souter Irene, Hayes Frances J, Levitsky Lynne L, Lin Angela E

Abstract excerpt

Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the phenotypic spectrum associated with various levels of 45,X/46,XX mosaicism, we compared patients...

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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: 33524610
DOI: 10.1016/j.ejmg.2021.104140
PMCID: PMC11134314

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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