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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.

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.[1]

References

  1. Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. Hershkovitz, E., Narkis, G., Shorer, Z., Moser, A.B., Watkins, P.A., Moser, H.W., Manor, E. Ann. Neurol. (2002) [Pubmed]
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