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Article

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

American journal of medical genetics. Part A - 1 Aug 2014

Kuroda Yukiko, Ohashi Ikuko, Saito Toshiyuki, Nagai Jun-ichi, Ida Kazumi, Naruto Takuya, Iai Mizue, Kurosawa Kenji

Abstract excerpt

Kuechler et al. [2011] reported five patients with interstitial deletions in 8q22.2-q22.3 who had intellectual disability, epilepsy, and dysmorphic features. We report on a new patient with the smallest overlapping de novo deletion in 8q22.3 and refined the phenotype. The proposita was an 8-year-old girl, who developed seizures at 10 months, and her epileptic seizure became severe and difficult to control with...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24801133
DOI: 10.1002/ajmg.a.36604

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NCALD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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