A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?
| Autor: | R Örs, V Baltaci, Sevim Balci, M Kaya |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
musculoskeletal diseases
Lissencephaly Chromosome 9 Consanguinity Biology Genetic determinism Muscular Dystrophies Genetic linkage medicine Humans Abnormalities Multiple Eye Abnormalities Walker–Warburg syndrome Metaphase Chromosomal inversion Genetics Homozygote Brain Infant Syndrome General Medicine medicine.disease Phenotype Magnetic Resonance Imaging Pedigree Chromosome Inversion Pediatrics Perinatology and Child Health Female Chromosomes Human Pair 9 |
| Zdroj: | Acta Paediatrica. 88:579-583 |
| ISSN: | 0803-5253 |
| Popis: | We describe a rare occurrence of pericentric inversion in homologues of chromosome 9 observed in a 2-mo-old female baby with eye and brain abnormalities. Her clinical and neuroradiological features are similar to the signs of Walker-Warburg syndrome. We found the same inversion in heterozygous condition in all metaphases of both parents, who are related, and in two grandparents and their mother. The cytogenetic abnormality alone does not explain the phenotype in this patient, but it warrants further linkage studies with emphasis on the pericentric region of chromosome 9 in patients with Walker-Warburg syndrome phenotype. This family case is unique and raises suspicions about whether the pericentric region of chromosome 9 has any connection with the phenotype of Walker-Warker syndrome. |
| Databáze: | OpenAIRE |
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