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Article

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

Fetal diagnosis and therapy - 1 Jan 2000

Dupont J M, Le Tessier D, Baverel F, Rouffet A, Rabineau D

Abstract excerpt

We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.

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

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Source

Identifiers

PMID: 9430209
DOI: 10.1159/000264486

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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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