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Article

Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.

Fertility and sterility - 1 Oct 2012

Zhong Quincy, Layman Lawrence C

Abstract excerpt

Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending on the mode of ascertainment, with postnatal...

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Share to Chromosomes, Human, X
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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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

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Source

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Identifiers

PMID: 23020909
DOI: 10.1016/j.fertnstert.2012.08.021
PMCID: PMC3573687

Genes

SHOX

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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