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Abnormal myelination in a patient with ring chromosome 18
J Nakayama1, K Hamano, Y Shimakura
1Department of Pediatrics, University of Tsukuba, Japan.
Neuropediatrics
|February 7, 1998
Summary
A Japanese boy with ring chromosome 18 showed abnormal brain myelination. Genetic analysis revealed a single copy of the myelin basic protein gene, suggesting a link between this gene and myelination issues.
Area of Science:
- Genetics
- Neuroscience
- Radiology
Background:
- Ring chromosome 18 is a rare chromosomal abnormality.
- Myelination is crucial for proper nervous system function.
Observation:
- A Japanese boy with ring chromosome 18 presented with abnormal myelination on MRI.
- Brain MRI revealed high signal intensity, indicating myelination abnormalities.
Findings:
- Cytogenetic analysis confirmed the ring chromosome 18 (46, XY, r(18)(p11.2 q21.33)).
- DNA analysis showed hemizygosity for the myelin basic protein gene.
Implications:
- This case suggests a potential link between myelin basic protein gene hemizygosity and abnormal myelination.
- Further research is needed to understand the role of this gene in myelination disorders.