Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation
✍ Scribed by Abbadi, N. ;Philippe, C. ;Chery, M. ;Gilgenkrantz, H. ;Tome, F. ;Collin, H. ;Theau, D. ;Recan, D. ;Broux, O. ;Fardeau, M. ;Kaplan, J.-C. ;Gilgenkrantz, S.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 904 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X‐linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X‐linked traits. © 1994 Wiley‐Liss, Inc.