Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Tschernigg, M; Petek, E; Wagner, K; Kroisel, PM.
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.
Genet Couns. 2002; 13(1):29-33
(- Case Report)
Web of Science
PubMed
- Führende Autor*innen der Med Uni Graz
- Kroisel Peter
- Tschernigg Michaela
- Co-Autor*innen der Med Uni Graz
- Petek Erwin
- Wagner Klaus
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- Abstract:
- Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of previously described patients with 4p duplication syndrome and include a deep hairline, deep-set eyes, short pug nose, full cheeks, simian crease, clinodactily of the fifth digit, no speech development and a moderate psychomotor retardation. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe confirmed that the extra material is of chromosome 4 origin. Further analysis with the Wolf-Hirschhorn critical region probe demonstrated the duplication of this region. The lysosomal hydrolase alpha-L-iduronidase (IDUA) gene which is mutated in mucopolysaccaridosis type I (MPS I) and mapped to 4p16.3 might be responsible for some of the MPS like facial features. A phenotype-genotype correlation analysis in combination with literature review was undertaken to allow a further delineation of partial trisomy 4p syndromes.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Child, Preschool - genetics
- Chromosomes, Human, Pair 4 - genetics
- Face - abnormalities
- Female - abnormalities
- Fingers - abnormalities
- Humans - abnormalities
- Mental Retardation - genetics
- Mucopolysaccharidosis I - genetics
- Syndrome - genetics
- Trisomy - genetics
- Find related publications in this database (Keywords)
- chromosome 4
- duplication 4p16.3-p15.3
- mild phenotype
- mucopolysaccaridosis type I
- Wolf-Hirschhorn syndrome