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Article

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.

Cytogenetic and genome research - 1 Jan 2016

Altıner Şule, Kutlay Nüket Y, İlhan Osman

Abstract excerpt

Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and...

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Share to Chromosomes, Human, Pair 8
Share to Genetic Predisposition to Disease
Share to Hematologic Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27838684
DOI: 10.1159/000452358

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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