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Article

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.

American journal of medical genetics. Part A - 1 Aug 2013

Fujita Atsushi, Suzumura Hiroshi, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Harada Naoki, Matsumoto Naomichi, Miyake Noriko

Abstract excerpt

De novo triplication together with uniparental disomy (UPD) is a rare genomic rearrangement, and, to our knowledge, co-occurrence has previously only been reported in two individuals. We encountered a patient with a suspected karyotype of 46,XX,del(5)(q33.1q33.3),dup(5)(q31.3q33.3) or (q33.1q35.1). Genetic analysis revealed tetrasomy of 5q33.3-q34 caused by de novo middle inverted triplication and uniparental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23824987
DOI: 10.1002/ajmg.a.36026

Genes

FOXI1

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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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