Research Article

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

  1. Peter M. Kroisel*,
  2. Erwin Petek,
  3. Klaus Wagner

Article first published online: 21 JUN 2001

DOI: 10.1002/ajmg.1443

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 102, Issue 3, pages 243–249, 15 August 2001

Additional Information

How to Cite

Kroisel, P. M., Petek, E. and Wagner, K. (2001), Phenotype of five patients with Greig syndrome and microdeletion of 7p13. American Journal of Medical Genetics, 102: 243–249. doi: 10.1002/ajmg.1443

Author Information

  1. Institute of Medical Biology and Human Genetics, Graz, Austria

*University of Graz, Institute of Medical Biology and Human Genetics, Harrachgasse 21/8, A-8010 Graz, Austria.

Publication History

  1. Issue published online: 26 JUL 2001
  2. Article first published online: 21 JUN 2001
  3. Manuscript Accepted: 12 APR 2001
  4. Manuscript Received: 12 APR 2000

Funded by

  • Fonds zur Förderung der wissenschaftlichen Forschung. Grant Numbers: P7785-Med, S7403-MOB
  • Erwin Schrödinger Fellowship. Grant Number: DJ735 Med

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Keywords:

  • Greig cephalopolysyndactyly syndrome (GCPS);
  • microdeletion;
  • phenotype-genotype correlation;
  • FISH analysis

Abstract

Here we describe five patients with Greig cephalopolysyndactyly syndrome (GCPS), including one pair of monozygotic twin boys with a de novo microdeletion involving the chromosomal band 7p13, where various clinical manifestations, in addition to GCPS, were recognized. Besides the twin pair, all patients are unrelated. Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, seizures, muscle fiber anomalies, cardiac anomalies, hyperglycemia, and hirsutism. Our observations suggest that in all cases of atypical GCPS, the presence of a cytogenetically detectable microdeletion or a submicroscopic deletion of 7p13 should be suspected. © 2001 Wiley-Liss, Inc.

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