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Article

Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.

American journal of medical genetics. Part A - 1 Jan 2008

Sensi Alberto, Prontera Paolo, Buldrini Barbara, Palma Silvia, Aiello Vincenzo, Gruppioni Rita, Calzolari Elisa, Volinia Stefano, Martini Alessandro

Abstract excerpt

We report on a 3-year-old child who presented a de novo rearrangement of chromosome 4, detected on GTG banding and characterized by array CGH and FISH, as a complex intrachromosomal rearrangement with three deletions: del(q32.1q32.2), del(q33q34.1), del(q35.2), one tandem duplication dup(q34.3q35.1) and short normal regions in between. The study of karyotype-phenotype correlations in this and other patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18074369
DOI: 10.1002/ajmg.a.32059

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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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