Case Report

Familial Pelizaeus–Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus†‡§

  1. Sophia Kitsiou-Tzeli1,‖,
  2. Anastasia Konstantinidou2,‖,*,
  3. Christalena Sofocleous1,
  4. Konstantina Kosma1,
  5. Areti Syrmou1,
  6. Krinio Giannikou1,
  7. Stavros Sifakis3,
  8. Periklis Makrythanasis1,¶,
  9. Maria Tzetis1

Article first published online: 18 APR 2012

DOI: 10.1002/bdra.23015

Issue

Birth Defects Research Part A: Clinical and Molecular Teratology

Birth Defects Research Part A: Clinical and Molecular Teratology

Volume 94, Issue 6, pages 494–498, June 2012

Additional Information

How to Cite

Kitsiou-Tzeli, S., Konstantinidou, A., Sofocleous, C., Kosma, K., Syrmou, A., Giannikou, K., Sifakis, S., Makrythanasis, P. and Tzetis, M. (2012), Familial Pelizaeus–Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus. Birth Defects Research Part A: Clinical and Molecular Teratology, 94: 494–498. doi: 10.1002/bdra.23015

Author Information

  1. 1

    Department of Medical Genetics, Medical School, University of Athens, Greece

  2. 2

    Department of Pathology, Medical School, University of Athens, Greece

  3. 3

    Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece

  1. Service of Genetic Medicine, University Hospitals of Geneva, Switzerland

  1. ‖

    S.K.-T. and A.K. contributed equally to this work.

*Department of Pathology, Medical School, University of Athens, 75, M. Asias str., 11527, Athens, Greece

  1. †

    Presented at the European Human Genetics Conference 2012, Nürnberg, Germany, June 23–26, 2012.

  2. ‡

    K.G. is supported by the Alexander S. Onassis Public Benefit Foundation. A. Konstantinidou is supported by REA Maternity Clinic, grant no. 70/3/11191.

  3. §

    Electronic Database Information: Database of Genomic Variants (DGV), http://projects.tcag.ca/variation/; Ensembl Human Genome Browser, http://www.ensembl.org/Homo_sapiens/; GeneCards, http://www.genecards.org/; Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim; University of California-Santa Cruz Human Genome Browser, http://genome.ucsc.edu/.

  4. ‖

    S.K.-T. and A.K. contributed equally to this work.

Publication History

  1. Issue published online: 11 JUN 2012
  2. Article first published online: 18 APR 2012
  3. Manuscript Accepted: 10 MAR 2012
  4. Manuscript Revised: 9 MAR 2012
  5. Manuscript Received: 22 FEB 2012

Funded by

  • Alexander S. Onassis Public Benefit Foundation
  • REA Maternity Clinic. Grant Number: 70/3/11191

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