Am J Med Genet. 2001 Aug 15;102(3):243-9.

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

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Institute of Medical Biology and Human Genetics, Graz, Austria. peter.kroisel@kfunigraz.ac.at

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.

PMID:: 11484201; [PubMed - indexed for MEDLINE]

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Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. [Clin Genet. 1997]
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Cited by 5 PubMed Central articles

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. [Eur J Hum Genet. 2011]
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, et al. Eur J Hum Genet. 2011 Jul; 19(7):757-62. Epub 2011 Feb 16.
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. [J Child Orthop. 2007]
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.
Debeer P, Devriendt K, De Smet L, Deravel T, Gonzalez-Meneses A, Grzeschik KH, Fryns JP. J Child Orthop. 2007 Jul; 1(2):143-50. Epub 2007 May 10.
Review The Greig cephalopolysyndactyly syndrome. [Orphanet J Rare Dis. 2008]
Review The Greig cephalopolysyndactyly syndrome.
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Phenotype of five patients with Greig syndrome and microdeletion of 7p13.
Phenotype of five patients with Greig syndrome and microdeletion of 7p13.
Am J Med Genet. 2001 Aug 15 ;102(3):243-9.

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