Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus
| Autor: | H. H. Ropers, H. Hameister, W. Heffungs |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty Pathology X Chromosome Adolescent media_common.quotation_subject Locus (genetics) Biology X-inactivation Sex Factors Addison Disease Internal medicine Genetics medicine Humans Girl Family history Genetics (clinical) X chromosome media_common Mosaicism Chromosome Mapping Diffuse Cerebral Sclerosis of Schilder Heterozygote advantage Karyotype Syndrome medicine.disease Pedigree Endocrinology Female Adrenoleukodystrophy |
| Zdroj: | Clinical Genetics. 18:184-188 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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