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Article

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.

American journal of medical genetics. Part A - 1 Jun 2008

Shinawi Marwan, Shao Lina, Jeng Linda Jo Bone, Shaw Chad A, Patel Ankita, Bacino Carlos, Sutton Vernon R, Belmont John, Cheung Sau Wai

Abstract excerpt

Trisomy 14 mosaicism is a rare cytogenetic abnormality with a defined and recognizable clinical phenotype. We present a detailed clinical history and physical findings of five patients with low-level mosaicism of trisomy 14 detected by array-based comparative genomic hybridization (array-CGH) analysis or by routine chromosome analysis. These patients exhibited growth and developmental delays with variable...

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Identifiers

PMID: 18412278
DOI: 10.1002/ajmg.a.32287

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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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