Abnormal myelination in a patient with ring chromosome 18.
Neuropediatrics
; 28(6): 335-7, 1997 Dec.
Article
em En
| MEDLINE
| ID: mdl-9453033
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). T2-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.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Cromossomos Humanos Par 18
/
Aberrações Cromossômicas
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article