Abnormal myelination in ring chromosome 18 syndrome
Ruba Benini1, Christine Saint-Martin, Michael I Shevell
1Division of Pediatric Neurology, McGill University, Montreal, Quebec, Canada.
Journal of Child Neurology
|February 1, 2012
Summary
Ring chromosome 18, a rare genetic disorder, causes significant developmental issues. This case highlights unique white matter changes in the brain, offering new insights into this complex syndrome.
Area of Science:
- Genetics
- Neurology
- Radiology
Background:
- Chromosome 18q- syndrome involves multisystemic issues due to genetic material deletion.
- Hypomyelination in 18q- is linked to myelin basic protein gene deletion at 18q23.
Observation:
- Presents a case of ring chromosome 18 with deletions in 18p11.32-18p11.21 and 18q21.31-18q23.
- Details cerebral anomalies, focusing on white matter changes via magnetic resonance imaging.
Findings:
- Ring chromosome 18 leads to a severe phenotype with combined deletions on chromosome arms.
- Magnetic resonance imaging reveals specific white matter abnormalities and their evolution.
Implications:
- Understanding cerebral anomalies in ring chromosome 18 is crucial for diagnosis and management.
- This case contributes to knowledge of white matter changes in rare chromosomal disorders.
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