Clinical Report

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

  1. Alberto Sensi1,*,
  2. Paolo Prontera1,2,
  3. Barbara Buldrini1,
  4. Silvia Palma3,
  5. Vincenzo Aiello1,
  6. Rita Gruppioni1,
  7. Elisa Calzolari1,
  8. Stefano Volinia4,
  9. Alessandro Martini3

Article first published online: 11 DEC 2007

DOI: 10.1002/ajmg.a.32059

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 1, pages 110–115, 1 January 2008

Additional Information

How to Cite

Sensi, A., Prontera, P., Buldrini, B., Palma, S., Aiello, V., Gruppioni, R., Calzolari, E., Volinia, S. and Martini, A. (2008), Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype. Am. J. Med. Genet., 146A: 110–115. doi: 10.1002/ajmg.a.32059

Author Information

  1. 1

    Genetica Medica, Università di Ferrara, Ferrara, Italy

  2. 2

    Genetica Medica, Università di Perugia, Perugia, Italy

  3. 3

    Audiologia, Università di Ferrara, Ferrara, Italy

  4. 4

    Istologia ed Embriologia Generale, Università di Ferrara, Ferrara, Italy

*Genetica Medica, Università di Ferrara, Via Fossato di Mortara 74, I 44100 Ferrara, Italy.

  1. †

    How to cite this article: Sensi A, Prontera P, Buldrini B, Palma S, Aiello V, Gruppioni R, Calzolari E, Volinia S, Martini A. 2007. Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype. Am J Med Genet Part A 146A:110–115.

Publication History

  1. Issue published online: 19 DEC 2007
  2. Article first published online: 11 DEC 2007
  3. Manuscript Accepted: 20 JUL 2007
  4. Manuscript Received: 3 APR 2007

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Keywords:

  • array-CGH;
  • complex intrachromosomal rearrangement;
  • chromosome 4;
  • deletion;
  • duplication;
  • 4q-syndrome

Abstract

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 deletions of 4q suggests 4q33q34.1 as a candidate region for 4q-syndrome and for craniofacial development. © 2007 Wiley-Liss, Inc.

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