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Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

1977; National Institutes of Health; Volume: 29; Issue: 4 Linguagem: Inglês

Hans‐Hilger Ropers, T. F. Wienker, T. Grimm, K Schroetter, K. Bender,

Lysosomal Storage Disorders Research

Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.