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Article

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

American journal of medical genetics. Part A - 1 May 2009

Kirchhoff Maria, Bisgaard Anne-Marie, Stoeva Radka, Dimitrov Boyan, Gillessen-Kaesbach Gabriele, Fryns Jean-Pierre, Rose Hanne, Grozdanova Liliana, Ivanov Ivan, Keymolen Kathelijn, Fagerberg Christina, Tranebjaerg Lisbeth, Skovby Flemming, Stefanova Margarita

Abstract excerpt

Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact breakpoints in 14 patients with partial deletions of this region. Subsequently, we linked the genotype to the patient's...

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

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Identifiers

PMID: 19363806
DOI: 10.1002/ajmg.a.32814

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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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