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Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling

✍ Scribed by Yesodharan, Dhanya; Thampi, M. V.; Koshy, Teena; Nampoothiri, Sheela


Book ID
121597538
Publisher
Springer-Verlag
Year
2013
Tongue
English
Weight
180 KB
Volume
81
Category
Article
ISSN
0019-5456

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Genetic counseling in Angelman syndrome:
✍ Stalker, Heather J.; Williams, Charles A. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 30 KB πŸ‘ 2 views

The causal heterogeneity of Angelman syndrome (AS) makes providing information regarding recurrence risk both important and challenging, and may have a dramatic impact on reproductive decision-making for the nuclear and extended family. Most cases of AS result from typical large de novo deletions of

Genetic counseling in Angelman syndrome:
✍ Stalker, Heather J.; Williams, Charles A.; Wagstaff, Joseph πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 2 KB πŸ‘ 2 views

Recently we published a review about genetic counseling and the provision of risk information in Angelman syndrome (AS) ]. However, since then, new evidence indicates that gonadal mosaicism may affect recurrence risk in the subset of AS patients who are affected as the result of UBE3A gene mutations