Abnormal Myelination in a Patient With Ring Chromosome 18

J. Nakayama; K. Hamano; Y. Shimakura; N. Iwasaki; C. Nakahara; N. Imoto; K. Kobayashi; T. Arinami; H. Hamaguchi

doi:10.1055/s-2007-973727

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Neuropediatrics 1997; 28(6): 335-337
DOI: 10.1055/s-2007-973727

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Abnormal Myelination in a Patient With Ring Chromosome 18

J. Nakayama¹ ^, ² , K. Hamano¹ , Y. Shimakura¹ , N. Iwasaki¹ , C. Nakahara¹ , N. Imoto¹ , K. Kobayashi² , T. Arinami² , H. Hamaguchi²

¹Department of Pediatrics, Institute of Clinical Medicine, and
²Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan

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Publication Date:
13 March 2007 (online)

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Abstract

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.

Key words

Ring chromosome 18 - Abnormal myelination - Myelin basic protein - Microsatellite marker