Case Reports
doi: 10.1002/ana.10248.
Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion
Affiliations
- PMID: 12210797
- DOI: 10.1002/ana.10248
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Case Reports
Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion
Ann Neurol.
2002 Aug.
Abstract
An 8.5-year-old girl with a pathogenic mutation (515insC) of the ATP-binding cassette, subfamily D, member 1 gene (ABCD1) on her maternally derived X chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27 on the paternally derived X chromosome. A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X-linked adrenoleukodystrophy heterozygotes.
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