Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes
β Scribed by Maja Di Rocco; Laura Doria-Lamba; Ubaldo Caruso
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 115 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0364-5134
- DOI
- 10.1002/ana.1220
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We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/ 46,XY mosaicism in lymphocytes but fibroblasts gro
## X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal β€-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACAL