Monozygotic Twin Pair Showing Discordant Phenotype for X-linked Thrombocytopenia and Wiskott–Aldrich Syndrome: a Role for Epigenetics?

Non-random X chromosome inactivation in

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

✍ Eliseörstavik, Ragnhild ;Tommerup, Niels ;Eiklid, Kristin ;Heleneörstavik, Karen 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 551 KB

Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to llp15.5, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twi