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Article

Mosaic trisomy r(14) associated with epilepsy and mental retardation.

Journal of child neurology - 1 Jul 2007

Tzoufi Meropi, Kanioglou Chrisanthi, Dasoula Aggeliki, Asproudis Ioannis, Tsatsoulis Agathoklis, Sismani Carolina, Patsalis Philippos C, Georgiou Ioannis, Syrrou Maria

Abstract excerpt

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 14
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ring Chromosomes

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Source

Identifiers

PMID: 17715281
DOI: 10.1177/0883073807304196

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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