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Clin Genet. 1980 Sep;18(3):184-8.

Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus.


Cerebral sclerosis and Addison disease were observed at age 14 years in a previously healthy sister of an affected boy. Clinical findings and family history established the diagnosis of X-linked adrenoleukodystrophy, which is normallly confined to males. The affected female has a normal karyotype; both X chromosomes are morphologically inconspicuous. Thus, this patient may be the first documented example of clinically manifest adrenoleukodystrophy in a heterozygote, which supports our previous conclusion that this X-linked locus is subject to inactivation.

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