Medizinische Universität Graz - Research portal
Selected Publication:
Kroisel, PM; Petek, E; Wagner, K.
Phenotype of five patients with Greig syndrome and microdeletion of 7p13.
Am J Med Genet. 2001; 102(3):243-249
Doi: 10.1002/ajmg.1443
(- Case Report)
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PubMed
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- Leading authors Med Uni Graz
- Kroisel Peter
- Co-authors Med Uni Graz
- Petek Erwin
- Wagner Klaus
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Adolescent - genetics
- Child, Preschool - genetics
- Chromosome Deletion - genetics
- Chromosomes, Human, Pair 7 - genetics
- Craniofacial Abnormalities - pathology
- Female - pathology
- Humans - pathology
- In Situ Hybridization, Fluorescence - pathology
- Infant - pathology
- Male - pathology
- Phenotype - pathology
- Syndactyly - pathology
- Syndrome - pathology
- Twins, Monozygotic - pathology
- Find related publications in this database (Keywords)
- Greig cephalopolysyndactyly syndrome (GCPS)
- microdeletion
- phenotypegenotype correlation
- FISH analysis