Abnormal Myelination in a Patient With Ring Chromosome 18
| Autor: | K. Kobayashi, N. Iwasaki, T. Arinami, C. Nakahara, Junko Nakayama, H. Hamaguchi, K. Hamano, N. Imoto, Y. Shimakura |
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| Rok vydání: | 1997 |
| Předmět: |
Male
Pathology medicine.medical_specialty Ring chromosome Chromosome Disorders Biology Genetic determinism Myelin chemistry.chemical_compound medicine Humans Ring Chromosomes Gene Myelin Sheath Chromosome Aberrations Genetics medicine.diagnostic_test Brain Magnetic resonance imaging General Medicine Magnetic Resonance Imaging Pedigree Myelin basic protein medicine.anatomical_structure nervous system chemistry Child Preschool Karyotyping Pediatrics Perinatology and Child Health biology.protein Microsatellite Neurology (clinical) Chromosomes Human Pair 18 Myelin Proteins DNA |
| Zdroj: | Neuropediatrics. 28:335-337 |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-2007-973727 |
| Popis: | We describe a Japanese boy with ring chromosome 18 in whom abnormal myelination was observed on magnetic resonance imaging. Cytogenetic investigation revealed 46, XY, r(18) (p11.2 q21.33). T 2- weighted magnetic resonance imaging scan of the brain demonstrated high signal intensity consistent with abnormal myelination. Microsatellite marker analysis of DNA demonstrated only one copy of the myelin basic protein gene, derived from the mother. The present case indicates that a hemizygous state for the myelin protein gene may be related to the abnormal myelination. |
| Databáze: | OpenAIRE |
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