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Article

Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.

American journal of medical genetics. Part A - 15 Aug 2003

Lorda-Sanchez Isabel, Trujillo Maria Jose, Gomez-Garre Pilar, de Alba Marta Rodríguez, Gonzalez-Gonzalez Cristina, García-Hoyos Maria, Ayuso Carmen, Ramos Carmen

Abstract excerpt

We report a girl with Turner syndrome phenotype, whose karyotype on amniocyte culture was 45,X, while cytogenetic analysis on peripheral blood lymphocytes showed the presence of a mosaic chromosome constitution with three different cell lines: 45,X[5]/46,XX[3]/47,XX,+18 [35]. No signs of trisomy 18 were observed and a follow up during childhood revealed normal psychomotor development. Parental origin and...

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Identifiers

PMID: 12900896
DOI: 10.1002/ajmg.a.10197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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