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Article

Molecular characterization of inv dup del(8p): analysis of five cases.

American journal of medical genetics. Part A - 15 Jul 2004

Shimokawa Osamu, Kurosawa Kenji, Ida Tomoko, Harada Naoki, Kondoh Tatsuro, Miyake Noriko, Yoshiura Kohichiro, Kishino Tatsuya, Ohta Tohru, Niikawa Norio, Matsumoto Naomichi

Abstract excerpt

We analyzed five patients with inverted duplication deletion of 8p [inv dup del(8p)] using fluorescence in situ hybridization (FISH) and short tandem repeat polymorphism (STRP) analysis. In all patients, inv dup del(8p) consisted of a deleted distal segment, an intact in-between segment, and a duplicated proximal segment. In all of them, the proximal breakpoint of the deletion and one of the breakpoints of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 15214003
DOI: 10.1002/ajmg.a.30063

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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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